A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523330



Internal ID15450623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40963145..41136353hg38UCSC Ensembl
Innerchr14:41432350..41605556hg19UCSC Ensembl
Innerchr14:40502100..40675306hg18UCSC Ensembl
Innerchr14:40502100..40675306hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38173209
hg19173207
hg18173207
hg17173207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134n21
Supporting Variantsnssv699074
Samples
Known GenesLOC644919
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523330
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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