A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2045925



Internal ID17490805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15382257..15408442hg38UCSC Ensembl
Innerchr16:15476114..15502299hg19UCSC Ensembl
Innerchr16:15383615..15409800hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3826186
hg1926186
hg1826186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977121
Supporting Variants
SamplesHGDP00998
Known GenesMPV17L
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)nssv2045925
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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