A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv832383



Internal ID16126339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93115086..93116087hg38UCSC Ensembl
Innerchr14:93581431..93582432hg19UCSC Ensembl
Innerchr14:92651184..92652185hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565558
Supporting Variants
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv832383
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer