A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044359



Internal ID19133578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19998696..20373156hg38UCSC Ensembl
Innerchr15:20203949..20578409hg19UCSC Ensembl
Innerchr15:18463963..18838423hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38374461
hg19374461
hg18374461
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2185n100
Supporting Variantsnssv3534490, nssv3534486, nssv3534477, nssv3534481, nssv3534493, nssv3534482, nssv3534491, nssv3534492, nssv3534488, nssv3534480, nssv3715706, nssv3534473, nssv3534489, nssv3534476, nssv3534485, nssv3534474, nssv3534475, nssv3534484, nssv3715703, nssv3715705, nssv3715704, nssv3534478, nssv3534487, nssv3534483, nssv3534479
Samples
Known GenesCHEK2P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044359
Frequency
Sample Size11257
Observed Gain6
Observed Loss19
Observed Complex0
Frequencyn/a


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