A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981602



Internal ID18616799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144353567..144377352hg38UCSC Ensembl
Innerchr7:144050660..144074445hg19UCSC Ensembl
Innerchr7:143681593..143705378hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3823786
hg1923786
hg1823786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2485657, nssv2485656, nssv2485653, nssv2485655, nssv2485661, nssv2485654, nssv2485660, nssv2485652, nssv2485658, nssv2485659
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARHGEF5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981602
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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