A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967809



Internal ID18603037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165210754..165216732hg38UCSC Ensembl
Innerchr4:166131906..166137884hg19UCSC Ensembl
Innerchr4:166351356..166357334hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg385979
hg195979
hg185979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2339696, nssv2339700, nssv2339703, nssv2339697, nssv2339698, nssv2339699, nssv2339695, nssv2339701, nssv2339702, nssv2339694
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967809
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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