A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2415183



Internal ID17804570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63580119..63581397hg38UCSC Ensembl
Innerchr6:64290024..64291302hg19UCSC Ensembl
Innerchr6:64347983..64349261hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381279
hg191279
hg181279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965740
Supporting Variants
SamplesHGDP00778
Known GenesPTP4A1
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)nssv2415183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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