A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2379999



Internal ID17808234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140821732..140822325hg38UCSC Ensembl
Innerchr5:140201317..140201910hg19UCSC Ensembl
Innerchr5:140181501..140182094hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964950
Supporting Variants
SamplesHGDP00778
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5
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)nssv2379999
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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