A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046249



Internal ID19135468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20267586..20422227hg38UCSC Ensembl
Innerchr15:20472839..20627480hg19UCSC Ensembl
Innerchr15:18732853..18887494hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38154642
hg19154642
hg18154642
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2226n100
Supporting Variantsnssv3534859, nssv3534861, nssv3534863, nssv3534860, nssv3534862, nssv3713679
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)nsv1046249
Frequency
Sample Size11257
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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