A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2378290



Internal ID17399373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140786102..140786602hg38UCSC Ensembl
Innerchr5:140165687..140166187hg19UCSC Ensembl
Innerchr5:140145871..140146371hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964946
Supporting Variants
SamplesHGDP00521
Known GenesPCDHA1
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)nssv2378290
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer