A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2379648



Internal ID17501861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140875448..140876155hg38UCSC Ensembl
Innerchr5:140255033..140255740hg19UCSC Ensembl
Innerchr5:140235217..140235924hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38708
hg19708
hg18708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964956
Supporting Variants
SamplesHGDP01029
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, 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)nssv2379648
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