A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972315



Internal ID18260845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37881691..37885803hg38UCSC Ensembl
Innerchr9:37881688..37885800hg19UCSC Ensembl
Innerchr9:37871688..37875800hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg384113
hg194113
hg184113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2529351, nssv2529353, nssv2529346, nssv2529345, nssv2529348, nssv2529354, nssv2529352, nssv2529347, nssv2529349, nssv2529350
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC25A51
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972315
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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