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dbVar

Database of genomic structural variation

nsv4863627

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:9,271

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: 293 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):104,831,519-104,840,919

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4863627	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	104,831,594 (-75, +2)	104,840,864 (-3, +55)
nsv4863627	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	105,297,931 (-75, +2)	105,307,201 (-3, +55)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16387379	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16387379	Remapped	Perfect	NC_000014.9:g.(104 831519_104831596)_ (104840861_1048409 19)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	104,831,594 (-75, +2)	104,840,864 (-3, +55)
nssv16387379	Submitted genomic		NC_000014.8:g.(105 297856_105297933)_ (105307198_1053072 56)dup	GRCh37 (hg19)		NC_000014.8	Chr14	105,297,931 (-75, +2)	105,307,201 (-3, +55)

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)
nssv16387379	<0.001	1	16834

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