A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571507



Internal ID16012230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14004283..14076712hg38UCSC Ensembl
Innerchr16:14098140..14170569hg19UCSC Ensembl
Innerchr16:14005641..14078070hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3872430
hg1972430
hg1872430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150542
SamplesHGDP00080
Known GenesMKL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571507
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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