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dbVar

Database of genomic structural variation

nsv5590941

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:50

Publication(s):Ebert et al. 2021

Links to Other Resources

Overlapping Genes

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: 171 SVs from 34 studies. See in: genome view

Submitted genomic3,649,048-3,649,097

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5590941	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	3,649,048	3,649,097
nsv5590941	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	3,649,046	3,649,095

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17104944	deletion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17104944	Submitted genomic		NC_000019.10:g.364 9048_3649097delT	GRCh38 (hg38)		NC_000019.10	Chr19	3,649,048	3,649,097
nssv17104944	Remapped	Perfect	NC_000019.9:g.3649 046_3649095delT	GRCh37.p13	First Pass	NC_000019.9	Chr19	3,649,046	3,649,095

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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