A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2692385



Internal ID17881751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129998869..130005557hg38UCSC Ensembl
Innerchr3:129717712..129724400hg19UCSC Ensembl
Innerchr3:131200402..131207090hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386689
hg196689
hg186689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967063
Supporting Variants
SamplesHGDP01307
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)nssv2692385
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