A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2050580



Internal ID17459175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18428014..18575158hg38UCSC Ensembl
Innerchr16:18521871..18586480hg19UCSC Ensembl
Innerchr16:18429372..18493981hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38147145
hg1964610
hg1864610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978101
Supporting Variants
SamplesHGDP00778
Known GenesABCC6P1, NOMO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2050580
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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