A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564330



Internal ID16351739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35534045..35535507hg38UCSC Ensembl
Innerchr14:36003251..36004713hg19UCSC Ensembl
Innerchr14:35073002..35074464hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381463
hg191463
hg181463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3632n54
Supporting Variantsnssv825747
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564330
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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