A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053738



Internal ID19142957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..20418941hg38UCSC Ensembl
Innerchr15:20262224..20624194hg19UCSC Ensembl
Innerchr15:18522238..18884208hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38361971
hg19361971
hg18361971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2197n100
Supporting Variantsnssv3538359, nssv3538358
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053738
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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