A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968877



Internal ID18604105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16901503..16905149hg38UCSC Ensembl
Innerchr5:16901612..16905258hg19UCSC Ensembl
Innerchr5:16954612..16958258hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg383647
hg193647
hg183647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2347952, nssv2347961, nssv2347959, nssv2347957, nssv2347953, nssv2347958, nssv2347956, nssv2347955, nssv2347960, nssv2347954
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYO10
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968877
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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