A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962756



Internal ID18597998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20334153..20340003hg38UCSC Ensembl
Innerchr22:20321676..20327526hg19UCSC Ensembl
Innerchr22:18701676..18707526hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385851
hg195851
hg185851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2255698, nssv2255703, nssv2255707, nssv2255702, nssv2255704, nssv2255705, nssv2255699, nssv2255700, nssv2255701, nssv2255706
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC729444
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962756
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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