A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2637908



Internal ID17467469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30250999..30272695hg38UCSC Ensembl
Innerchr16:30262320..30284016hg19UCSC Ensembl
Innerchr16:30169821..30191517hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3821697
hg1921697
hg1821697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984413
Supporting Variants
SamplesHGDP00927
Known GenesLOC440354, LOC595101
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2637908
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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