A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966835



Internal ID18602065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66805092..66806466hg38UCSC Ensembl
Innerchr7:66270079..66271453hg19UCSC Ensembl
Innerchr7:65907514..65908888hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg381375
hg191375
hg181375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2460465, nssv2460456, nssv2460464, nssv2460461, nssv2460463, nssv2460457, nssv2460462, nssv2460459, nssv2460458, nssv2460460
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRABGEF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966835
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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