A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047605



Internal ID19136824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47754828..47808236hg38UCSC Ensembl
Innerchr14:48224031..48277439hg19UCSC Ensembl
Innerchr14:47293781..47347189hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3853409
hg1953409
hg1853409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1914n100
Supporting Variantsnssv3531684, nssv3531683, nssv3531680, nssv3531682, nssv3531681
Samples
Known GenesLINC00648, MIR548Y
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047605
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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