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dbVar

Database of genomic structural variation

nsv5565356

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:68

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: 153 SVs from 32 studies. See in: genome view

Submitted genomic127,247,316-127,247,383

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5565356	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	127,247,316	127,247,383
nsv5565356	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	126,583,008	126,583,075

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17130779	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17130779	Submitted genomic		NC_000005.10:g.127 247316_127247383de lG	GRCh38 (hg38)		NC_000005.10	Chr5	127,247,316	127,247,383
nssv17130779	Remapped	Perfect	NC_000005.9:g.1265 83008_126583075del G	GRCh37.p13	First Pass	NC_000005.9	Chr5	126,583,008	126,583,075

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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