A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2437787



Internal ID17774184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:15700106..15704930hg38UCSC Ensembl
Innerchr7:15739731..15744555hg19UCSC Ensembl
Innerchr7:15706256..15711080hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg384825
hg194825
hg184825
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970799
Supporting Variants
SamplesHGDP00542
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)nssv2437787
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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