A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984076



Internal ID18272580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57714425..57715966hg38UCSC Ensembl
Innerchr15:58006623..58008164hg19UCSC Ensembl
Innerchr15:55793915..55795456hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2026193, nssv2026187, nssv2026189, nssv2026190, nssv2026185, nssv2026192, nssv2026191, nssv2026188, nssv2026186, nssv2026184
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGCOM1, POLR2M
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984076
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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