A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969092



Internal ID18257634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178037252..178039501hg38UCSC Ensembl
Innerchr5:177464253..177466502hg19UCSC Ensembl
Innerchr5:177396859..177399108hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382250
hg192250
hg182250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2704896, nssv2704895, nssv2704893, nssv2704898, nssv2704894, nssv2704892, nssv2705330, nssv2704897, nssv2704899, nssv2704891
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFAM153C
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969092
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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