A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564171



Internal ID16004894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30598884..30680424hg38UCSC Ensembl
Innerchr14:31068090..31149630hg19UCSC Ensembl
Innerchr14:30137841..30219381hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3881541
hg1981541
hg1881541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825135
Samples
Known GenesG2E3, SCFD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564171
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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