A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2402617



Internal ID17497745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31163935..31166130hg38UCSC Ensembl
Innerchr6:31131712..31133907hg19UCSC Ensembl
Innerchr6:31239691..31241886hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382196
hg192196
hg182196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970105
Supporting Variants
SamplesHGDP01029
Known GenesPOU5F1, TCF19
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)nssv2402617
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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