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dbVar

Database of genomic structural variation

nsv6314631

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;XY;inv(12)(p12.1q21.2)dn AND Autistic behavior
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: 76 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):13,802,882-13,802,882

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314631	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	13,802,882	13,802,882	-
nsv6314631	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	13,802,884	13,802,884	+
nsv6314631	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	81,925,247	81,925,247	+
nsv6314631	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	81,925,249	81,925,249	-
nsv6314631	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	13,955,816	13,955,816	-
nsv6314631	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	13,955,818	13,955,818	+
nsv6314631	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	82,319,026	82,319,026	+
nsv6314631	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	82,319,028	82,319,028	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975403	inversion	Multiple	Multiple	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258585.1, VCV000267954.1
nssv17975402	inversion	Multiple	Multiple	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258585.1, VCV000267954.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17975403	Remapped	Perfect	NC_000012.12:g.138 02882inv420NC_0000 12.12:g.81925247in v420	GRCh38.p12	First Pass	NC_000012.12	Chr12	13,802,882	13,802,882
nssv17975402	Remapped	Perfect	NC_000012.12:g.138 02884inv1046NC_000 012.12:g.81925249i nv1046	GRCh38.p12	First Pass	NC_000012.12	Chr12	13,802,884	13,802,884
nssv17975403	Remapped	Perfect	NC_000012.12:g.138 02882inv420NC_0000 12.12:g.81925247in v420	GRCh38.p12	First Pass	NC_000012.12	Chr12	81,925,247	81,925,247
nssv17975402	Remapped	Perfect	NC_000012.12:g.138 02884inv1046NC_000 012.12:g.81925249i nv1046	GRCh38.p12	First Pass	NC_000012.12	Chr12	81,925,249	81,925,249
nssv17975403	Submitted genomic		NC_000012.11:g.139 55816inv420NC_0000 12.11:g.82319026in v420	GRCh37 (hg19)		NC_000012.11	Chr12	13,955,816	13,955,816
nssv17975402	Submitted genomic		NC_000012.11:g.139 55818inv1046NC_000 012.11:g.82319028i nv1046	GRCh37 (hg19)		NC_000012.11	Chr12	13,955,818	13,955,818
nssv17975403	Submitted genomic		NC_000012.11:g.139 55816inv420NC_0000 12.11:g.82319026in v420	GRCh37 (hg19)		NC_000012.11	Chr12	82,319,026	82,319,026
nssv17975402	Submitted genomic		NC_000012.11:g.139 55818inv1046NC_000 012.11:g.82319028i nv1046	GRCh37 (hg19)		NC_000012.11	Chr12	82,319,028	82,319,028

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
nssv17975403	GRCh37: NC_000012.11:g.13955816inv420NC_000012.11:g.82319026inv420	inversion	de novo	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258585.1, VCV000267954.1
nssv17975402	GRCh37: NC_000012.11:g.13955818inv1046NC_000012.11:g.82319028inv1046	inversion	de novo	Autistic behavior; Autistic behavior	Pathogenic	ClinVar	RCV000258585.1, VCV000267954.1

No genotype data were submitted for this variant

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