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dbVar

Database of genomic structural variation

nsv5571392

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:243

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: 136 SVs from 34 studies. See in: genome view

Submitted genomic185,230,621-185,230,863

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5571392	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	185,230,621	185,230,863
nsv5571392	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	184,948,409	184,948,651

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17121449	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
nssv17121449	Submitted genomic		NC_000003.12:g.185 230621_185230863de lC	GRCh38 (hg38)		NC_000003.12	Chr3	185,230,621	185,230,863
nssv17121449	Remapped	Perfect	NC_000003.11:g.184 948409_184948651de lC	GRCh37.p13	First Pass	NC_000003.11	Chr3	184,948,409	184,948,651

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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