A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968219



Internal ID18256761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95887120..95888856hg38UCSC Ensembl
Innerchr5:95222824..95224560hg19UCSC Ensembl
Innerchr5:95248580..95250316hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2370030, nssv2370033, nssv2370028, nssv2370024, nssv2370027, nssv2370026, nssv2370032, nssv2370031, nssv2370029, nssv2370025
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesELL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968219
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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