A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952045



Internal ID17300919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67385098..67467797hg38UCSC Ensembl
Outerchr16:67419001..67501700hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3882700
hg1982700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000162
SamplesBILGI_BIOE
Known GenesATP6V0D1, HSD11B2, LRRC36, TPPP3, ZDHHC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952045
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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