A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966294



Internal ID18601524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87207290..87209154hg38UCSC Ensembl
Innerchr4:88128442..88130306hg19UCSC Ensembl
Innerchr4:88347466..88349330hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381865
hg191865
hg181865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2327227, nssv2327233, nssv2327226, nssv2327231, nssv2327234, nssv2327232, nssv2327230, nssv2327235, nssv2327228, nssv2327229
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966294
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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