A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295932



Internal ID17816542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136201394..136207078hg38UCSC Ensembl
Innerchr3:135920236..135925920hg19UCSC Ensembl
Innerchr3:137402926..137408610hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg385685
hg195685
hg185685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965213
Supporting Variants
SamplesHGDP00927
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)nssv2295932
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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