A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564332



Internal ID16351741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35534103..35535507hg38UCSC Ensembl
Innerchr14:36003309..36004713hg19UCSC Ensembl
Innerchr14:35073060..35074464hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3633n54
Supporting Variantsnssv825751
Samples
Known GenesINSM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564332
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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