A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042772



Internal ID19131991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20283071..20638246hg38UCSC Ensembl
Innerchr15:20488324..20843550hg19UCSC Ensembl
Innerchr15:18748338..19103564hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38355176
hg19355227
hg18355227
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2231n100
Supporting Variantsnssv3536031, nssv3536032
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042772
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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