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dbVar

Database of genomic structural variation

nsv4964960

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:66,744

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: 232 SVs from 47 studies. See in: genome view

Submitted genomic92,148,896-92,215,642

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4964960	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	92,148,898 (-2)	92,215,641 (-1, +1)
nsv4964960	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	91,778,212 (-2)	91,844,955 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16495962	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16495962	Submitted genomic		NC_000007.14:g.(92 148896_?)_(9221564 0_92215642)dup	GRCh38 (hg38)		NC_000007.14	Chr7	92,148,898 (-2)	92,215,641 (-1, +1)
nssv16495962	Remapped	Perfect	NC_000007.13:g.(91 778210_?)_(9184495 4_91844956)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	91,778,212 (-2)	91,844,955 (-1, +1)

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)
nssv16495962	<0.001	1	29246

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