A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972760



Internal ID18607976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:72652732..72656103hg38UCSC Ensembl
Innerchr9:75267648..75271019hg19UCSC Ensembl
Innerchr9:74457468..74460839hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg383372
hg193372
hg183372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2551949, nssv2551953, nssv2551948, nssv2551951, nssv2551952, nssv2551946, nssv2551950, nssv2551945, nssv2551947, nssv2551954
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972760
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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