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dbVar

Database of genomic structural variation

nsv7093981

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:14,014

Description:
See descriptions for individual calls in download files

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: 141 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):8,648,091-8,662,104

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093981	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	8,648,091	8,662,104
nsv7093981	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	8,800,687	8,814,700

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789624	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113268.2, VCV002424686.2
nssv18789625	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113269.2, VCV002424687.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789624	Remapped	Perfect	NC_000012.12:g.(?_ 8648091)_(8662104_ ?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	8,648,091	8,662,104
nssv18789625	Remapped	Perfect	NC_000012.12:g.(?_ 8648091)_(8662104_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	8,648,091	8,662,104
nssv18789624	Submitted genomic		NC_000012.11:g.(?_ 8800687)_(8814700_ ?)del	GRCh37 (hg19)		NC_000012.11	Chr12	8,800,687	8,814,700
nssv18789625	Submitted genomic		NC_000012.11:g.(?_ 8800687)_(8814700_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	8,800,687	8,814,700

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
nssv18789624	GRCh37: NC_000012.11:g.(?_8800687)_(8814700_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003113268.2, VCV002424686.2
nssv18789625	GRCh37: NC_000012.11:g.(?_8800687)_(8814700_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003113269.2, VCV002424687.2

No genotype data were submitted for this variant

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