A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2405487



Internal ID17842135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33329888..33357339hg38UCSC Ensembl
Innerchr6:33297665..33325116hg19UCSC Ensembl
Innerchr6:33405643..33433094hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3827452
hg1927452
hg1827452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969386
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)nssv2405487
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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