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dbVar

Database of genomic structural variation

nsv6314469

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(1;2)(p34.2;q35)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: 68 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):20,558,564-20,558,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	20,558,564	20,558,564	-
nsv6314469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	20,558,570	20,558,570	+
nsv6314469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	224,530,224	224,530,224	+
nsv6314469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	224,530,225	224,530,225	+
nsv6314469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	224,916,514	224,916,514	+
nsv6314469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	224,920,190	224,920,190	-
nsv6314469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	20,885,057	20,885,057	-
nsv6314469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	20,885,063	20,885,063	+
nsv6314469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	225,394,941	225,394,941	+
nsv6314469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	225,394,942	225,394,942	+
nsv6314469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	225,781,231	225,781,231	+
nsv6314469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	225,784,907	225,784,907	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976048	interchromosomal translocation	Multiple	Multiple	ANXIETY; Abnormal skull morphology; Abnormal skull morphology; Anxiety; Anxiety; Cleft upper lip; Cleft upper lip; Delayed speech and language development; Delayed speech and language development; Enuresis; Enuresis; Facial asymmetry; Facial asymmetry; Heart murmur; Heart murmur; Intellectual disability, mild; Intellectual disability, mild; Mild global developmental delay; Mild global developmental delay; Motor delay; Motor delay	Pathogenic	ClinVar	RCV000258789.2, VCV000267887.1
nssv17976047	interchromosomal translocation	Multiple	Multiple	ANXIETY; Abnormal skull morphology; Abnormal skull morphology; Anxiety; Anxiety; Cleft upper lip; Cleft upper lip; Delayed speech and language development; Delayed speech and language development; Enuresis; Enuresis; Facial asymmetry; Facial asymmetry; Heart murmur; Heart murmur; Intellectual disability, mild; Intellectual disability, mild; Mild global developmental delay; Mild global developmental delay; Motor delay; Motor delay	Pathogenic	ClinVar	RCV000258789.2, VCV000267887.1
nssv17976046	intrachromosomal translocation	Multiple	Multiple	ANXIETY; Abnormal skull morphology; Abnormal skull morphology; Anxiety; Anxiety; Cleft upper lip; Cleft upper lip; Delayed speech and language development; Delayed speech and language development; Enuresis; Enuresis; Facial asymmetry; Facial asymmetry; Heart murmur; Heart murmur; Intellectual disability, mild; Intellectual disability, mild; Mild global developmental delay; Mild global developmental delay; Motor delay; Motor delay	Pathogenic	ClinVar	RCV000258789.2, VCV000267887.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17976048	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,558,564	20,558,564	-
nssv17976047	Remapped	Perfect	GRCh38.p12	First Pass	NC_000001.11	Chr1	20,558,570	20,558,570	+
nssv17976048	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	224,530,224	224,530,224	+
nssv17976046	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	224,530,225	224,530,225	+
nssv17976047	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	224,916,514	224,916,514	+
nssv17976046	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	224,920,190	224,920,190	-
nssv17976048	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	20,885,057	20,885,057	-
nssv17976047	Submitted genomic		GRCh37 (hg19)		NC_000001.10	Chr1	20,885,063	20,885,063	+
nssv17976048	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	225,394,941	225,394,941	+
nssv17976046	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	225,394,942	225,394,942	+
nssv17976047	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	225,781,231	225,781,231	+
nssv17976046	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	225,784,907	225,784,907	-

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976048	interchromosomal translocation	de novo	ANXIETY; Abnormal skull morphology; Abnormal skull morphology; Anxiety; Anxiety; Cleft upper lip; Cleft upper lip; Delayed speech and language development; Delayed speech and language development; Enuresis; Enuresis; Facial asymmetry; Facial asymmetry; Heart murmur; Heart murmur; Intellectual disability, mild; Intellectual disability, mild; Mild global developmental delay; Mild global developmental delay; Motor delay; Motor delay	Pathogenic	ClinVar	RCV000258789.2, VCV000267887.1
nssv17976047	interchromosomal translocation	de novo	ANXIETY; Abnormal skull morphology; Abnormal skull morphology; Anxiety; Anxiety; Cleft upper lip; Cleft upper lip; Delayed speech and language development; Delayed speech and language development; Enuresis; Enuresis; Facial asymmetry; Facial asymmetry; Heart murmur; Heart murmur; Intellectual disability, mild; Intellectual disability, mild; Mild global developmental delay; Mild global developmental delay; Motor delay; Motor delay	Pathogenic	ClinVar	RCV000258789.2, VCV000267887.1
nssv17976046	intrachromosomal translocation	de novo	ANXIETY; Abnormal skull morphology; Abnormal skull morphology; Anxiety; Anxiety; Cleft upper lip; Cleft upper lip; Delayed speech and language development; Delayed speech and language development; Enuresis; Enuresis; Facial asymmetry; Facial asymmetry; Heart murmur; Heart murmur; Intellectual disability, mild; Intellectual disability, mild; Mild global developmental delay; Mild global developmental delay; Motor delay; Motor delay	Pathogenic	ClinVar	RCV000258789.2, VCV000267887.1

No genotype data were submitted for this variant

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