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dbVar

Database of genomic structural variation

nsv5568347

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:695

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: 485 SVs from 49 studies. See in: genome view

Submitted genomic146,300,946-146,301,640

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5568347	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	146,300,946	146,301,640
nsv5568347	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	3,116,359	3,117,053

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17061121	deletion	HG03683	Sequencing	Sequence alignment	2,232

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17061121	Submitted genomic		NC_000001.11:g.146 300946_146301640de lG	GRCh38 (hg38)		NC_000001.11	Chr1	146,300,946	146,301,640
nssv17061121	Remapped	Perfect	NW_003871055.3:g.3 116359_3117053delG	GRCh37.p13	First Pass	NW_003871055.3	Chr1\|NW_00 3871055.3	3,116,359	3,117,053

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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