A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423562



Internal ID17837382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:135619080..135620174hg38UCSC Ensembl
Innerchr6:135940218..135941312hg19UCSC Ensembl
Innerchr6:135981911..135983005hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381095
hg191095
hg181095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969450
Supporting Variants
SamplesHGDP00998
Known GenesLINC00271, MIR548H4
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)nssv2423562
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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