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dbVar

Database of genomic structural variation

nsv4805878

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:17,620

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

Remapped(Score: Perfect):141,414,878-141,432,524

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4805878	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	141,414,896 (-18, +14)	141,432,515 (-9, +9)
nsv4805878	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	140,794,463 (-18, +14)	140,812,082 (-9, +9)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16394404	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16394404	Remapped	Perfect	NC_000005.10:g.(14 1414878_141414910) _(141432506_141432 524)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	141,414,896 (-18, +14)	141,432,515 (-9, +9)
nssv16394404	Submitted genomic		NC_000005.9:g.(140 794445_140794477)_ (140812073_1408120 91)dup	GRCh37 (hg19)		NC_000005.9	Chr5	140,794,463 (-18, +14)	140,812,082 (-9, +9)

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)
nssv16394404	0.002	39	16834

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