A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2473046



Internal ID17456736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:106249918..106251336hg38UCSC Ensembl
Innerchr7:105890364..105891782hg19UCSC Ensembl
Innerchr7:105677600..105679018hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381419
hg191419
hg181419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970929
Supporting Variants
SamplesHGDP00778
Known GenesNAMPT
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)nssv2473046
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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