A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2379281



Internal ID17773657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140801428..140803108hg38UCSC Ensembl
Innerchr5:140181013..140182693hg19UCSC Ensembl
Innerchr5:140161197..140162877hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964948
Supporting Variants
SamplesHGDP00542
Known GenesPCDHA1, PCDHA2, PCDHA3
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)nssv2379281
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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