A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2368552



Internal ID17743207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96942227..96943843hg38UCSC Ensembl
Innerchr5:96277931..96279547hg19UCSC Ensembl
Innerchr5:96303687..96305303hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381617
hg191617
hg181617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980700
Supporting Variants
SamplesHGDP00456
Known GenesLNPEP
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)nssv2368552
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