A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054888



Internal ID17451827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29521497..29622812hg38UCSC Ensembl
Innerchr16:29532818..29634133hg19UCSC Ensembl
Innerchr16:29440319..29541634hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38101316
hg19101316
hg18101316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978128
Supporting Variants
SamplesHGDP00778
Known GenesLOC440354, SLC7A5P1
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)nssv2054888
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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