A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2704370



Internal ID17747567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181409801..181413332hg38UCSC Ensembl
Innerchr5:180836802..180840333hg19UCSC Ensembl
Innerchr5:180769408..180772939hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383532
hg193532
hg183532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980831
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2704370
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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