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dbVar

Database of genomic structural variation

nsv3899136

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:37,867

Description:GRCh37/hg19 11p13(chr11:31311902-31349768)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: 200 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):31,290,355-31,328,221

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3899136	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	31,290,355	31,328,221
nsv3899136	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	31,311,902	31,349,768

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124446	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000240582.1, VCV000253711.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15124446	Remapped	Perfect	NC_000011.10:g.(?_ 31290355)_(3132822 1_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	31,290,355	31,328,221
nssv15124446	Submitted genomic		NC_000011.9:g.(?_3 1311902)_(31349768 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	31,311,902	31,349,768

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
nssv15124446	GRCh37: NC_000011.9:g.(?_31311902)_(31349768_?)del	copy number loss	unknown	See cases	Uncertain significance	ClinVar	RCV000240582.1, VCV000253711.1	1

No genotype data were submitted for this variant

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