A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2392477



Internal ID17841360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4978842..4982640hg38UCSC Ensembl
Innerchr6:4979076..4982874hg19UCSC Ensembl
Innerchr6:4924075..4927873hg18UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970072
Supporting Variants
SamplesHGDP00998
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)nssv2392477
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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