A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970099



Internal ID18258637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29587526..29588769hg38UCSC Ensembl
Innerchr6:29555303..29556546hg19UCSC Ensembl
Innerchr6:29663282..29664525hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381244
hg191244
hg181244
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2400942, nssv2400944, nssv2400947, nssv2400946, nssv2400943, nssv2400941, nssv2400949, nssv2400945, nssv2400948, nssv2400950
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesOR2H2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970099
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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