A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043275



Internal ID19132494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20441310hg38UCSC Ensembl
Innerchr15:20440526..20646563hg19UCSC Ensembl
Innerchr15:18700540..18906577hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38206038
hg19206038
hg18206038
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2216n100
Supporting Variantsnssv3539449, nssv3539450, nssv3539453, nssv3539457, nssv3539459, nssv3539454, nssv3539451, nssv3713573, nssv3539458, nssv3539455, nssv3539456, nssv3713572, nssv3539452
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)nsv1043275
Frequency
Sample Size11257
Observed Gain10
Observed Loss3
Observed Complex0
Frequencyn/a


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