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dbVar

Database of genomic structural variation

nsv7093700

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:118

Description:NC_000010.10:g.(?_120905748)_(120905865_?)dup AND not provided

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: 69 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):119,146,236-119,146,353

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093700	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	119,146,236	119,146,353
nsv7093700	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	120,905,748	120,905,865

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790444	duplication	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV003114118.2, VCV002427788.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790444	Remapped	Perfect	NC_000010.11:g.(?_ 119146236)_(119146 353_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	119,146,236	119,146,353
nssv18790444	Submitted genomic		NC_000010.10:g.(?_ 120905748)_(120905 865_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	120,905,748	120,905,865

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
nssv18790444	GRCh37: NC_000010.10:g.(?_120905748)_(120905865_?)dup	duplication	germline	not provided	Likely pathogenic	ClinVar	RCV003114118.2, VCV002427788.2

No genotype data were submitted for this variant

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