A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407607



Internal ID17806061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37084818..37093020hg38UCSC Ensembl
Innerchr6:37052594..37060796hg19UCSC Ensembl
Innerchr6:37160572..37168774hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg388203
hg198203
hg188203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969392
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)nssv2407607
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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