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dbVar

Database of genomic structural variation

nsv5672785

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:5,583

Description:NC_000011.9:g.(?_93529566)_(93535148_?)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: 85 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):93,796,400-93,801,982

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672785	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	93,796,400	93,801,982
nsv5672785	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	93,529,566	93,535,148

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171994	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001390923.2, VCV001076892.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171994	Remapped	Perfect	NC_000011.10:g.(?_ 93796400)_(9380198 2_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	93,796,400	93,801,982
nssv17171994	Submitted genomic		NC_000011.9:g.(?_9 3529566)_(93535148 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	93,529,566	93,535,148

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
nssv17171994	GRCh37: NC_000011.9:g.(?_93529566)_(93535148_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001390923.2, VCV001076892.2

No genotype data were submitted for this variant

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