A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2697135



Internal ID17774987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50616062..50617999hg38UCSC Ensembl
Innerchr5:49911896..49913833hg19UCSC Ensembl
Innerchr5:49947653..49949590hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980789
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2697135
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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