A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2421869



Internal ID17462199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:117706910..117710345hg38UCSC Ensembl
Innerchr6:118028073..118031508hg19UCSC Ensembl
Innerchr6:118134766..118138201hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg383436
hg193436
hg183436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969438
Supporting Variants
SamplesHGDP00778
Known GenesNUS1
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)nssv2421869
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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