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dbVar

Database of genomic structural variation

nsv3904925

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:9,740

Description:GRCh37/hg19 11p15.4(chr11:8959136-8968875)x1 AND See cases

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: 137 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):8,937,589-8,947,328

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3904925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	8,937,589	8,947,328
nsv3904925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	8,959,136	8,968,875

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140618	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000447071.3, VCV000394901.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140618	Remapped	Perfect	NC_000011.10:g.(?_ 8937589)_(8947328_ ?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	8,937,589	8,947,328
nssv15140618	Submitted genomic		NC_000011.9:g.(?_8 959136)_(8968875_? )del	GRCh37 (hg19)		NC_000011.9	Chr11	8,959,136	8,968,875

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	Copy number
nssv15140618	GRCh37: NC_000011.9:g.(?_8959136)_(8968875_?)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000447071.3, VCV000394901.3	1

No genotype data were submitted for this variant

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