A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970082



Internal ID18258620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26122625..26124547hg38UCSC Ensembl
Innerchr6:26122853..26124775hg19UCSC Ensembl
Innerchr6:26230832..26232754hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381923
hg191923
hg181923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2396167, nssv2396165, nssv2396172, nssv2396169, nssv2396168, nssv2396171, nssv2396170, nssv2396174, nssv2396173, nssv2396166
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHIST1H2AC, HIST1H2BC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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