A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2049727



Internal ID17424241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20409387..20492193hg38UCSC Ensembl
Innerchr16:20420709..20503515hg19UCSC Ensembl
Innerchr16:20328210..20411016hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3882807
hg1982807
hg1882807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984287
Supporting Variants
SamplesHGDP00542
Known GenesACSM2A, ACSM5
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)nssv2049727
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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