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dbVar

Database of genomic structural variation

nsv3882671

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:140,957

Description:
NC_000007.14:g.(?_146655407)_(146796363_?)del AND Autism
Publication(s):Kushima et al. 2018, Miller et al. 2010

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: 719 SVs from 71 studies. See in: genome view

Submitted genomic146,655,407-146,796,363

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3882671	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	146,655,407	146,796,363
nsv3882671	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	146,352,499	146,493,455

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15145056	deletion	Multiple	Multiple	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Likely pathogenic	ClinVar	RCV000754326.1, VCV000545342.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15145056	Submitted genomic		NC_000007.14:g.(?_ 146655407)_(146796 363_?)del	GRCh38 (hg38)		NC_000007.14	Chr7	146,655,407	146,796,363
nssv15145056	Remapped	Perfect	NC_000007.13:g.(?_ 146352499)_(146493 455_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	146,352,499	146,493,455

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
nssv15145056	GRCh38: NC_000007.14:g.(?_146655407)_(146796363_?)del	deletion	germline	AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset	Likely pathogenic	ClinVar	RCV000754326.1, VCV000545342.1

No genotype data were submitted for this variant

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