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dbVar

Database of genomic structural variation

nsv5009181

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:70,001

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: 411 SVs from 50 studies. See in: genome view

Submitted genomic90,949,020-91,019,180

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5009181	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	90,949,100 (-80)	91,019,100 (-2, +80)
nsv5009181	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	91,492,330 (-80)	91,562,330 (-2, +80)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16573935	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16573935	Submitted genomic		NC_000015.10:g.(90 949020_?)_(9101909 8_91019180)dup	GRCh38 (hg38)		NC_000015.10	Chr15	90,949,100 (-80)	91,019,100 (-2, +80)
nssv16573935	Remapped	Perfect	NC_000015.9:g.(914 92250_?)_(91562328 _91562410)dup	GRCh37.p13	First Pass	NC_000015.9	Chr15	91,492,330 (-80)	91,562,330 (-2, +80)

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)
nssv16573935	<0.001	2	29246

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