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dbVar

Database of genomic structural variation

nsv4673887

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:825,011

Description:
See descriptions for individual calls in download files
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: 2001 SVs from 91 studies. See in: genome view

Remapped(Score: Perfect):95,264,287-96,089,297

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv4673887	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	95,264,287	95,279,689	95,593,338	96,089,297
nsv4673887	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	95,930,035	95,945,437	96,259,086	96,755,045

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16206467	copy number gain	Multiple	Multiple	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Uncertain significance	ClinVar	RCV001004825.2, VCV000813848.2	3
nssv16297017	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV001270254.2, VCV000988607.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv16206467	Remapped	Perfect	NC_000002.12:g.(95 264287_95279689)_( 95593338_96089297) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	95,264,287	95,279,689	95,593,338	96,089,297
nssv16297017	Remapped	Perfect	NC_000002.12:g.(95 264287_95279689)_( 95593338_96089297) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	95,264,287	95,279,689	95,593,338	96,089,297
nssv16206467	Submitted genomic		NC_000002.11:g.(95 930035_95945437)_( 96259086_96755045) dup	GRCh37 (hg19)		NC_000002.11	Chr2	95,930,035	95,945,437	96,259,086	96,755,045
nssv16297017	Submitted genomic		NC_000002.11:g.(95 930035_95945437)_( 96259086_96755045) dup	GRCh37 (hg19)		NC_000002.11	Chr2	95,930,035	95,945,437	96,259,086	96,755,045

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
nssv16206467	GRCh37: NC_000002.11:g.(95930035_95945437)_(96259086_96755045)dup	copy number gain	unknown	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Uncertain significance	ClinVar	RCV001004825.2, VCV000813848.2	3
nssv16297017	GRCh37: NC_000002.11:g.(95930035_95945437)_(96259086_96755045)dup	copy number gain	unknown	See cases	Uncertain significance	ClinVar	RCV001270254.2, VCV000988607.2	3

No genotype data were submitted for this variant

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