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dbVar

Database of genomic structural variation

nsv4985585

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:5,491

Publication(s):Abel et al. 2020

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: 114 SVs from 39 studies. See in: genome view

Submitted genomic50,418,189-50,423,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4985585	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	50,418,193 (-4, +4)	50,423,683 (-2, +2)
nsv4985585	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	50,811,976 (-4, +4)	50,817,466 (-2, +2)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16552169	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16552169	Submitted genomic		NC_000012.12:g.(50 418189_50418197)_( 50423681_50423685) dup	GRCh38 (hg38)		NC_000012.12	Chr12	50,418,193 (-4, +4)	50,423,683 (-2, +2)
nssv16552169	Remapped	Perfect	NC_000012.11:g.(50 811972_50811980)_( 50817464_50817468) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	50,811,976 (-4, +4)	50,817,466 (-2, +2)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16552169	<0.001	1	29246

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