A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054190



Internal ID17734132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29236458..29251381hg38UCSC Ensembl
Innerchr16:29247779..29262702hg19UCSC Ensembl
Innerchr16:29155280..29170203hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814924
hg1914924
hg1814924
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977948
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2054190
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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