A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2420475



Internal ID17773533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:112355156..112362297hg38UCSC Ensembl
Innerchr6:112676358..112683499hg19UCSC Ensembl
Innerchr6:112783051..112790192hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg387142
hg197142
hg187142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970160
Supporting Variants
SamplesHGDP00542
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)nssv2420475
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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