A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565526



Internal ID16352935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..92960275hg38UCSC Ensembl
Innerchr14:93407062..93426620hg19UCSC Ensembl
Innerchr14:92476815..92496373hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3819559
hg1919559
hg1819559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149541
Samples1780862084_A
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565526
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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