A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2274526



Internal ID17785544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:14194919..14198307hg38UCSC Ensembl
Innerchr3:14236419..14239807hg19UCSC Ensembl
Innerchr3:14211423..14214811hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg383389
hg193389
hg183389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963299
Supporting Variants
SamplesHGDP00665
Known GenesLSM3
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)nssv2274526
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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