A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2408477



Internal ID17881549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46204954..46207434hg38UCSC Ensembl
Innerchr6:46172691..46175171hg19UCSC Ensembl
Innerchr6:46280650..46283130hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382481
hg192481
hg182481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970118
Supporting Variants
SamplesHGDP01307
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)nssv2408477
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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