A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972648



Internal ID18607864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:9090657..9091667hg38UCSC Ensembl
Innerchr9:9090657..9091667hg19UCSC Ensembl
Innerchr9:9080657..9081667hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2520666, nssv2520665, nssv2522751, nssv2522752, nssv2522749, nssv2522747, nssv2522750, nssv2522753, nssv2520664, nssv2522748
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPRD
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972648
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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