A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969410



Internal ID18257951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57939920..57943068hg38UCSC Ensembl
Innerchr6:58266198..58269346hg19UCSC Ensembl
Innerchr6:58374157..58377305hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383149
hg193149
hg183149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2706631, nssv2706632, nssv2706628, nssv2706627, nssv2706625, nssv2706626, nssv2706630, nssv2706633, nssv2706634, nssv2706629
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)nsv969410
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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