A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2405244



Internal ID17785685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34245713..34272547hg38UCSC Ensembl
Innerchr6:34213490..34240324hg19UCSC Ensembl
Innerchr6:34321468..34348302hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3826835
hg1926835
hg1826835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969388
Supporting Variants
SamplesHGDP00665
Known GenesC6orf1, HMGA1
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)nssv2405244
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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