A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596972



Internal ID16037695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6713530..6714694hg38UCSC Ensembl
Innerchr5:6713643..6714807hg19UCSC Ensembl
Innerchr5:6766643..6767807hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381165
hg191165
hg181165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9559n54
Supporting Variantsnssv1023772, nssv1023771, nssv1023773
Samples
Known GenesPAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596972
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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