A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054237



Internal ID17866496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29256268..29306468hg38UCSC Ensembl
Innerchr16:29267589..29317789hg19UCSC Ensembl
Innerchr16:29175090..29225290hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3850201
hg1950201
hg1850201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977949
Supporting Variants
SamplesHGDP01284
Known GenesSNX29P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2054237
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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