A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044213



Internal ID19133432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20402808hg38UCSC Ensembl
Innerchr15:20440526..20608061hg19UCSC Ensembl
Innerchr15:18700540..18868075hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38167536
hg19167536
hg18167536
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2216n100
Supporting Variantsnssv3539442, nssv3539443
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)nsv1044213
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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