A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2402847



Internal ID17498309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30633650..30640631hg38UCSC Ensembl
Innerchr6:30601427..30608408hg19UCSC Ensembl
Innerchr6:30709406..30716387hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg386982
hg196982
hg186982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969376
Supporting Variants
SamplesHGDP01029
Known GenesATAT1
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)nssv2402847
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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