A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972319



Internal ID18607535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39340706..39390774hg38UCSC Ensembl
Innerchr9:39340703..39390771hg19UCSC Ensembl
Innerchr9:39330703..39380771hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3850069
hg1950069
hg1850069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2531412, nssv2531419, nssv2531415, nssv2531413, nssv2531417, nssv2531416, nssv2531418, nssv2531411, nssv2531414, nssv2531420
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPATA31A1, SPATA31A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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