A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2302235



Internal ID17788790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:172720628..172726521hg38UCSC Ensembl
Innerchr3:172438418..172444311hg19UCSC Ensembl
Innerchr3:173921112..173927005hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg385894
hg195894
hg185894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965234
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2302235
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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