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dbVar

Database of genomic structural variation

nsv5578420

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:326

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: 137 SVs from 35 studies. See in: genome view

Submitted genomic127,611,674-127,611,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5578420	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	127,611,674	127,611,999
nsv5578420	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	127,330,517	127,330,842

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17123174	deletion	SAMN00001694	Sequencing	Sequence alignment	8,610

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17123174	Submitted genomic		NC_000003.12:g.127 611674_127611999de lG	GRCh38 (hg38)		NC_000003.12	Chr3	127,611,674	127,611,999
nssv17123174	Remapped	Perfect	NC_000003.11:g.127 330517_127330842de lG	GRCh37.p13	First Pass	NC_000003.11	Chr3	127,330,517	127,330,842

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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