A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969481



Internal ID18258022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57933639..57939920hg38UCSC Ensembl
Innerchr6:58259917..58266198hg19UCSC Ensembl
Innerchr6:58367876..58374157hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg386282
hg196282
hg186282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2706622, nssv2706513, nssv2706619, nssv2706618, nssv2706620, nssv2706621, nssv2706616, nssv2706617, nssv2706615, nssv2706512
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGUSBP4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969481
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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