A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970091



Internal ID18258629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27146249..27147770hg38UCSC Ensembl
Innerchr6:27114028..27115549hg19UCSC Ensembl
Innerchr6:27222007..27223528hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381522
hg191522
hg181522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2399336, nssv2399328, nssv2399333, nssv2399330, nssv2399337, nssv2399332, nssv2399335, nssv2399329, nssv2399334, nssv2399331
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHIST1H2AH, HIST1H2BK, MIR3143
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970091
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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