A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2697005



Internal ID17774982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34222577..34229367hg38UCSC Ensembl
Innerchr5:34222682..34229472hg19UCSC Ensembl
Innerchr5:34258439..34265229hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg386791
hg196791
hg186791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968301
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2697005
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