A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2377888



Internal ID17464591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140670812..140674005hg38UCSC Ensembl
Innerchr5:140050397..140053590hg19UCSC Ensembl
Innerchr5:140030581..140033774hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383194
hg193194
hg183194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964945
Supporting Variants
SamplesHGDP00927
Known GenesDND1, HARS, WDR55
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)nssv2377888
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