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dbVar

Database of genomic structural variation

nsv5564746

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:422

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: 138 SVs from 31 studies. See in: genome view

Submitted genomic127,810,849-127,811,270

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5564746	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	127,810,849	127,811,270
nsv5564746	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	127,529,692	127,530,113

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17131271	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
nssv17131271	Submitted genomic		NC_000003.12:g.127 810849_127811270de lG	GRCh38 (hg38)		NC_000003.12	Chr3	127,810,849	127,811,270
nssv17131271	Remapped	Perfect	NC_000003.11:g.127 529692_127530113de lG	GRCh37.p13	First Pass	NC_000003.11	Chr3	127,529,692	127,530,113

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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