A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381702



Internal ID17391569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141332493..141333291hg38UCSC Ensembl
Innerchr5:140712060..140712858hg19UCSC Ensembl
Innerchr5:140692244..140693042hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964962
Supporting Variants
SamplesHGDP00456
Known GenesPCDHGA1
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)nssv2381702
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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