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dbVar

Database of genomic structural variation

nsv5381737

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:3,607

Description:NC_000009.11:g.(?_101594048)_(101597654_?)del 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: 70 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):98,831,766-98,835,372

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381737	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	98,831,766	98,835,372
nsv5381737	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	101,594,048	101,597,654

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867287	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001346671.5, VCV001042679.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867287	Remapped	Perfect	NC_000009.12:g.(?_ 98831766)_(9883537 2_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	98,831,766	98,835,372
nssv16867287	Submitted genomic		NC_000009.11:g.(?_ 101594048)_(101597 654_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	101,594,048	101,597,654

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
nssv16867287	GRCh37: NC_000009.11:g.(?_101594048)_(101597654_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001346671.5, VCV001042679.5

No genotype data were submitted for this variant

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