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dbVar

Database of genomic structural variation

nsv5005104

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:43,211

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: 570 SVs from 65 studies. See in: genome view

Submitted genomic106,814,741-106,857,957

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5005104	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	106,814,744 (-3, +1)	106,857,954 (-1, +3)
nsv5005104	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	1,477,911 (-3, +1)	1,521,121 (-1, +3)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16556130	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16556130	Submitted genomic		NC_000014.9:g.(106 814741_106814745)_ (106857953_1068579 57)dup	GRCh38 (hg38)		NC_000014.9	Chr14	106,814,744 (-3, +1)	106,857,954 (-1, +3)
nssv16556130	Remapped	Perfect	NW_004166863.1:g.( 1477908_1477912)_( 1521120_1521124)du p	GRCh37.p13	First Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	1,477,911 (-3, +1)	1,521,121 (-1, +3)

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)
nssv16556130	<0.001	1	29246

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