A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2305055



Internal ID17489989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184149752..184157260hg38UCSC Ensembl
Innerchr3:183867540..183875048hg19UCSC Ensembl
Innerchr3:185350234..185357742hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg387509
hg197509
hg187509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965241
Supporting Variants
SamplesHGDP00998
Known GenesDVL3
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)nssv2305055
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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