A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295239



Internal ID17831625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124150278..124155879hg38UCSC Ensembl
Innerchr3:123869125..123874726hg19UCSC Ensembl
Innerchr3:125351815..125357416hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg385602
hg195602
hg185602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979873
Supporting Variants
SamplesHGDP00998
Known GenesKALRN
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)nssv2295239
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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