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dbVar

Database of genomic structural variation

nsv7098099

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:1,010

Description:NC_000009.11:g.(?_79959059)_(79960068_?)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: 65 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):77,344,143-77,345,152

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098099	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	77,344,143	77,345,152
nsv7098099	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	79,959,059	79,960,068

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787944	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003122962.2, VCV002427128.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787944	Remapped	Perfect	NC_000009.12:g.(?_ 77344143)_(7734515 2_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	77,344,143	77,345,152
nssv18787944	Submitted genomic		NC_000009.11:g.(?_ 79959059)_(7996006 8_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	79,959,059	79,960,068

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
nssv18787944	GRCh37: NC_000009.11:g.(?_79959059)_(79960068_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003122962.2, VCV002427128.2

No genotype data were submitted for this variant

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