A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213396



Internal ID17470178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177616554..177619167hg38UCSC Ensembl
Innerchr2:178481282..178483895hg19UCSC Ensembl
Innerchr2:178189528..178192141hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382614
hg192614
hg182614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961914
Supporting Variants
SamplesHGDP00927
Known GenesTTC30A
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)nssv2213396
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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