A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407721



Internal ID17806180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:39958448..39958948hg38UCSC Ensembl
Innerchr6:39926187..39926687hg19UCSC Ensembl
Innerchr6:40034165..40034665hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969393
Supporting Variants
SamplesHGDP00778
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)nssv2407721
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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