A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148978



Internal ID15881035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100527708..100617621hg38UCSC Ensembl
Innerchr14:100994045..101083958hg19UCSC Ensembl
Innerchr14:100063798..100153711hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3889914
hg1989914
hg1889914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565783
Supporting Variants
SamplesNINDS_61
Known GenesBEGAIN, WDR25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148978
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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