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dbVar

Database of genomic structural variation

nsv5602678

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:2,092

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: 149 SVs from 29 studies. See in: genome view

Submitted genomic120,129,631-120,131,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5602678	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	120,129,631	120,131,722
nsv5602678	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	120,000,339	120,002,430

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17072891	deletion	HG03732	Sequencing	Sequence alignment	1,582

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17072891	Submitted genomic		NC_000011.10:g.120 129631_120131722de lA	GRCh38 (hg38)		NC_000011.10	Chr11	120,129,631	120,131,722
nssv17072891	Remapped	Perfect	NC_000011.9:g.1200 00339_120002430del A	GRCh37.p13	First Pass	NC_000011.9	Chr11	120,000,339	120,002,430

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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