A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960277



Internal ID18595530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47136559..47138515hg38UCSC Ensembl
Innerchr18:44662930..44664886hg19UCSC Ensembl
Innerchr18:42916928..42918884hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381957
hg191957
hg181957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2124226, nssv2124230, nssv2124232, nssv2124225, nssv2124231, nssv2124227, nssv2124229, nssv2124223, nssv2124228, nssv2124224
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHDHD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960277
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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