A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972764



Internal ID18607980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81930022..81933271hg38UCSC Ensembl
Innerchr9:84544937..84548186hg19UCSC Ensembl
Innerchr9:83734757..83738006hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg383250
hg193250
hg183250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2554778, nssv2554775, nssv2554774, nssv2554779, nssv2554773, nssv2554776, nssv2554771, nssv2554772, nssv2554780, nssv2554777
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPATA31D4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972764
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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