A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564169



Internal ID16004892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30349881..31072288hg38UCSC Ensembl
Innerchr14:30819087..31541494hg19UCSC Ensembl
Innerchr14:29888838..30611245hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38722408
hg19722408
hg18722408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825133
Samples
Known GenesAP4S1, COCH, G2E3, LOC100506071, MIR624, SCFD1, STRN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564169
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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