A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2485456



Internal ID17737987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149671401..149687858hg38UCSC Ensembl
Innerchr7:149368492..149384949hg19UCSC Ensembl
Innerchr7:148999425..149015882hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3816458
hg1916458
hg1816458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966908
Supporting Variants
SamplesHGDP00456
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)nssv2485456
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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