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dbVar

Database of genomic structural variation

nsv6315369

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,256,373

Description:GRCh37/hg19 Yq11.223-11.23(chrY:25856867-28113239)x2 AND Autism
Publication(s):Miller et al. 2010, Shao et al. 2021

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: 817 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):23,710,720-25,967,092

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6315369	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	23,710,720	25,967,092
nsv6315369	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	25,856,867	28,113,239

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976830	copy number gain	Multiple	Multiple	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Uncertain significance	ClinVar	RCV002286333.1, VCV001707417.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17976830	Remapped	Perfect	NC_000024.10:g.(23 710720_?)_(?_25967 092)dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	23,710,720	25,967,092
nssv17976830	Submitted genomic		NC_000024.9:g.(258 56867_?)_(?_281132 39)dup	GRCh37 (hg19)		NC_000024.9	ChrY	25,856,867	28,113,239

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	Copy number
nssv17976830	GRCh37: NC_000024.9:g.(25856867_?)_(?_28113239)dup	copy number gain	unknown	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Uncertain significance	ClinVar	RCV002286333.1, VCV001707417.1	2

No genotype data were submitted for this variant

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