A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969387



Internal ID18604614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33398018..33403502hg38UCSC Ensembl
Innerchr6:33365795..33371279hg19UCSC Ensembl
Innerchr6:33473773..33479257hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg385485
hg195485
hg185485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2404463, nssv2404464, nssv2404470, nssv2404472, nssv2404469, nssv2404468, nssv2404471, nssv2404466, nssv2404465, nssv2404467
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKIFC1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969387
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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