A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523193



Internal ID15103800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40813595..40818212hg38UCSC Ensembl
Innerchr8:40671114..40675731hg19UCSC Ensembl
Innerchr8:40790271..40794888hg18UCSC Ensembl
Innerchr8:40790271..40794888hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384618
hg194618
hg184618
hg174618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698909
Samples
Known GenesZMAT4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523193
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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