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dbVar

Database of genomic structural variation

nsv6314434

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;inv(14)(q24.1q32.1)dn AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 85 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):64,254,366-64,254,366

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	64,254,366	64,254,366	-
nsv6314434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	64,254,370	64,254,370	+
nsv6314434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	94,572,549	94,572,549	-
nsv6314434	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	94,572,550	94,572,550	+
nsv6314434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	64,721,084	64,721,084	-
nsv6314434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	64,721,088	64,721,088	+
nsv6314434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	95,038,886	95,038,886	-
nsv6314434	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	95,038,887	95,038,887	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975756	inversion	Multiple	Multiple	Abnormal autonomic nervous system physiology; Abnormal autonomic nervous system physiology; Abnormal facial shape; Abnormal facial shape; Abnormal periventricular white matter morphology; Abnormal periventricular white matter morphology; Abnormal renal morphology; Abnormal renal morphology; Abnormality of skin physiology; Abnormality of skin physiology; Arrhythmia; Atrial septal defect; Atrial septal defect; Atrial septal defect; Cardiac arrhythmia; Diabetes mellitus type 1; Ectopic pancreatic tissue; Ectopic pancreatic tissue; Interatrial communication; Mitral regurgitation; Mitral regurgitation; Strabismus; Strabismus; TYPE 1 DIABETES MELLITUS; T1D; Tricuspid regurgitation; Tricuspid regurgitation; Type I diabetes mellitus; Vasovagal syncope; Vasovagal syncope; obsolete Dysautonomia	Uncertain significance	ClinVar	RCV000258687.1, VCV000267889.1
nssv17975755	inversion	Multiple	Multiple	Abnormal autonomic nervous system physiology; Abnormal autonomic nervous system physiology; Abnormal facial shape; Abnormal facial shape; Abnormal periventricular white matter morphology; Abnormal periventricular white matter morphology; Abnormal renal morphology; Abnormal renal morphology; Abnormality of skin physiology; Abnormality of skin physiology; Arrhythmia; Atrial septal defect; Atrial septal defect; Atrial septal defect; Cardiac arrhythmia; Diabetes mellitus type 1; Ectopic pancreatic tissue; Ectopic pancreatic tissue; Interatrial communication; Mitral regurgitation; Mitral regurgitation; Strabismus; Strabismus; TYPE 1 DIABETES MELLITUS; T1D; Tricuspid regurgitation; Tricuspid regurgitation; Type I diabetes mellitus; Vasovagal syncope; Vasovagal syncope; obsolete Dysautonomia	Uncertain significance	ClinVar	RCV000258687.1, VCV000267889.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17975756	Remapped	Perfect	NC_000014.9:g.6425 4366inv794NC_00001 4.9:g.94572550inv7 94	GRCh38.p12	First Pass	NC_000014.9	Chr14	64,254,366	64,254,366
nssv17975755	Remapped	Perfect	NC_000014.9:g.9457 2549inv1046NC_0000 14.9:g.64254370inv 1046	GRCh38.p12	First Pass	NC_000014.9	Chr14	64,254,370	64,254,370
nssv17975755	Remapped	Perfect	NC_000014.9:g.9457 2549inv1046NC_0000 14.9:g.64254370inv 1046	GRCh38.p12	First Pass	NC_000014.9	Chr14	94,572,549	94,572,549
nssv17975756	Remapped	Perfect	NC_000014.9:g.6425 4366inv794NC_00001 4.9:g.94572550inv7 94	GRCh38.p12	First Pass	NC_000014.9	Chr14	94,572,550	94,572,550
nssv17975756	Submitted genomic		NC_000014.8:g.6472 1084inv794NC_00001 4.8:g.95038887inv7 94	GRCh37 (hg19)		NC_000014.8	Chr14	64,721,084	64,721,084
nssv17975755	Submitted genomic		NC_000014.8:g.6472 1088inv1046NC_0000 14.8:g.95038886inv 1046	GRCh37 (hg19)		NC_000014.8	Chr14	64,721,088	64,721,088
nssv17975755	Submitted genomic		NC_000014.8:g.6472 1088inv1046NC_0000 14.8:g.95038886inv 1046	GRCh37 (hg19)		NC_000014.8	Chr14	95,038,886	95,038,886
nssv17975756	Submitted genomic		NC_000014.8:g.6472 1084inv794NC_00001 4.8:g.95038887inv7 94	GRCh37 (hg19)		NC_000014.8	Chr14	95,038,887	95,038,887

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975756	GRCh37: NC_000014.8:g.64721084inv794NC_000014.8:g.95038887inv794	inversion	de novo	Abnormal autonomic nervous system physiology; Abnormal autonomic nervous system physiology; Abnormal facial shape; Abnormal facial shape; Abnormal periventricular white matter morphology; Abnormal periventricular white matter morphology; Abnormal renal morphology; Abnormal renal morphology; Abnormality of skin physiology; Abnormality of skin physiology; Arrhythmia; Atrial septal defect; Atrial septal defect; Atrial septal defect; Cardiac arrhythmia; Diabetes mellitus type 1; Ectopic pancreatic tissue; Ectopic pancreatic tissue; Interatrial communication; Mitral regurgitation; Mitral regurgitation; Strabismus; Strabismus; TYPE 1 DIABETES MELLITUS; T1D; Tricuspid regurgitation; Tricuspid regurgitation; Type I diabetes mellitus; Vasovagal syncope; Vasovagal syncope; obsolete Dysautonomia	Uncertain significance	ClinVar	RCV000258687.1, VCV000267889.1
nssv17975755	GRCh37: NC_000014.8:g.64721088inv1046NC_000014.8:g.95038886inv1046	inversion	de novo	Abnormal autonomic nervous system physiology; Abnormal autonomic nervous system physiology; Abnormal facial shape; Abnormal facial shape; Abnormal periventricular white matter morphology; Abnormal periventricular white matter morphology; Abnormal renal morphology; Abnormal renal morphology; Abnormality of skin physiology; Abnormality of skin physiology; Arrhythmia; Atrial septal defect; Atrial septal defect; Atrial septal defect; Cardiac arrhythmia; Diabetes mellitus type 1; Ectopic pancreatic tissue; Ectopic pancreatic tissue; Interatrial communication; Mitral regurgitation; Mitral regurgitation; Strabismus; Strabismus; TYPE 1 DIABETES MELLITUS; T1D; Tricuspid regurgitation; Tricuspid regurgitation; Type I diabetes mellitus; Vasovagal syncope; Vasovagal syncope; obsolete Dysautonomia	Uncertain significance	ClinVar	RCV000258687.1, VCV000267889.1

No genotype data were submitted for this variant

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