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dbVar

Database of genomic structural variation

nsv3878782

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:91,504

Description:NC_000003.12:g.(?_188343948)_(188435451_?)del AND Schizophrenia
Publication(s):Kushima et al. 2018

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: 267 SVs from 50 studies. See in: genome view

Submitted genomic188,343,948-188,435,451

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3878782	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	188,343,948	188,435,451
nsv3878782	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	188,061,736	188,153,239

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15145478	deletion	Multiple	Multiple	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	Likely pathogenic	ClinVar	RCV000754275.1, VCV000545291.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15145478	Submitted genomic		NC_000003.12:g.(?_ 188343948)_(188435 451_?)del	GRCh38 (hg38)		NC_000003.12	Chr3	188,343,948	188,435,451
nssv15145478	Remapped	Perfect	NC_000003.11:g.(?_ 188061736)_(188153 239_?)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	188,061,736	188,153,239

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
nssv15145478	GRCh38: NC_000003.12:g.(?_188343948)_(188435451_?)del	deletion	germline	SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease)	Likely pathogenic	ClinVar	RCV000754275.1, VCV000545291.1

No genotype data were submitted for this variant

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