A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980688



Internal ID18269202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77290575..77291767hg38UCSC Ensembl
Innerchr5:76586400..76587592hg19UCSC Ensembl
Innerchr5:76622156..76623348hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381193
hg191193
hg181193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365881, nssv2365878, nssv2365879, nssv2365877, nssv2365883, nssv2365880, nssv2365882, nssv2365884, nssv2365876, nssv2365885
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPDE8B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980688
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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