A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564905



Internal ID16005628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63953695..64287643hg38UCSC Ensembl
Innerchr14:64420413..64754361hg19UCSC Ensembl
Innerchr14:63490166..63824114hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38333949
hg19333949
hg18333949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149496
Samples1780854492_A
Known GenesESR2, MIR548AZ, SYNE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564905
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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