A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962793



Internal ID18598035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39014160..39017969hg38UCSC Ensembl
Innerchr22:39410165..39413974hg19UCSC Ensembl
Innerchr22:37740111..37743920hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383810
hg193810
hg183810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2267668, nssv2267666, nssv2267663, nssv2267665, nssv2267661, nssv2267659, nssv2267664, nssv2267667, nssv2267660, nssv2267662
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAPOBEC3C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962793
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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