A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975693



Internal ID18264214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48016980..48019775hg38UCSC Ensembl
Innerchr10:49224996..49227790hg19UCSC Ensembl
Innerchr10:48895002..48897796hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382796
hg192795
hg182795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2613953, nssv2613960, nssv2613955, nssv2613956, nssv2613958, nssv2613957, nssv2613962, nssv2613961, nssv2613954, nssv2613959
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCTGLF12P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975693
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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