A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053680



Internal ID19142899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19998696..20441310hg38UCSC Ensembl
Innerchr15:20203949..20646563hg19UCSC Ensembl
Innerchr15:18463963..18906577hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38442615
hg19442615
hg18442615
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2185n100
Supporting Variantsnssv3715710, nssv3715708, nssv3534501, nssv3715709, nssv3534503, nssv3534502
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)nsv1053680
Frequency
Sample Size11257
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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