A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2429193



Internal ID17806896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:159748492..159750866hg38UCSC Ensembl
Innerchr6:160169524..160171898hg19UCSC Ensembl
Innerchr6:160089514..160091888hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg382375
hg192375
hg182375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981201
Supporting Variants
SamplesHGDP00778
Known GenesWTAP
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)nssv2429193
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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