A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2365976



Internal ID17523603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75374056..75374913hg38UCSC Ensembl
Innerchr5:74669881..74670738hg19UCSC Ensembl
Innerchr5:74705637..74706494hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980685
Supporting Variants
SamplesHGDP01284
Known GenesCOL4A3BP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2365976
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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