A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2426249



Internal ID17842105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:139611994..139621183hg38UCSC Ensembl
Innerchr6:139933131..139942320hg19UCSC Ensembl
Innerchr6:139974824..139984013hg18UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg389190
hg199190
hg189190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969451
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2426249
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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