A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969371



Internal ID18257912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29461587..29462783hg38UCSC Ensembl
Innerchr6:29429364..29430560hg19UCSC Ensembl
Innerchr6:29537343..29538539hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381197
hg191197
hg181197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2401436, nssv2401432, nssv2401430, nssv2401434, nssv2401433, nssv2401431, nssv2401439, nssv2401437, nssv2401435, nssv2401438
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOR2H1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969371
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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