A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381829



Internal ID17869235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141224497..141225901hg38UCSC Ensembl
Innerchr5:140604069..140605473hg19UCSC Ensembl
Innerchr5:140584253..140585657hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968257
Supporting Variants
SamplesHGDP01284
Known GenesPCDHB14
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)nssv2381829
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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