Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3899944

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:2,934,978

Description:GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 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: 10215 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):11,497,257-14,432,234

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3899944	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	11,497,257	14,432,234
nsv3899944	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	11,608,072	14,543,046

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142072	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511013.2, VCV000443220.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142072	Remapped	Perfect	NC_000019.10:g.(?_ 11497257)_(1443223 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	11,497,257	14,432,234
nssv15142072	Submitted genomic		NC_000019.9:g.(?_1 1608072)_(14543046 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	11,608,072	14,543,046

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
nssv15142072	GRCh37: NC_000019.9:g.(?_11608072)_(14543046_?)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000511013.2, VCV000443220.2	3

No genotype data were submitted for this variant

You are here: NCBI