A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975696



Internal ID18264217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48027812..48032408hg38UCSC Ensembl
Innerchr10:49235829..49240426hg19UCSC Ensembl
Innerchr10:48905835..48910432hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg384597
hg194598
hg184598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2614041, nssv2614035, nssv2614038, nssv2614037, nssv2614043, nssv2614039, nssv2614042, nssv2614044, nssv2614040, nssv2614036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTGLF12P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975696
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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