A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968286



Internal ID18603514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179613342..179615129hg38UCSC Ensembl
Innerchr5:179040343..179042130hg19UCSC Ensembl
Innerchr5:178972949..178974736hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381788
hg191788
hg181788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2389233, nssv2389232, nssv2389229, nssv2389225, nssv2389230, nssv2389231, nssv2389228, nssv2389224, nssv2389227, nssv2389226
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHNRNPH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968286
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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