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dbVar

Database of genomic structural variation

nsv5601556

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:39,393

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: 265 SVs from 52 studies. See in: genome view

Submitted genomic30,252,116-30,291,508

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5601556	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	30,252,116	30,291,508
nsv5601556	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	30,263,437	30,302,829

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17080028	deletion	HG02587	Sequencing	Sequence alignment	2,330

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17080028	Submitted genomic		NC_000016.10:g.302 52116_30291508delT	GRCh38 (hg38)		NC_000016.10	Chr16	30,252,116	30,291,508
nssv17080028	Remapped	Perfect	NC_000016.9:g.3026 3437_30302829delT	GRCh37.p13	First Pass	NC_000016.9	Chr16	30,263,437	30,302,829

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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