A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2379836



Internal ID17750037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140883153..140884255hg38UCSC Ensembl
Innerchr5:140262738..140263840hg19UCSC Ensembl
Innerchr5:140242922..140244024hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381103
hg191103
hg181103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968252
Supporting Variants
SamplesHGDP00521
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)nssv2379836
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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