A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000189



Internal ID16946455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88257295..88780192hg38UCSC Ensembl
Outerchr16:88290901..88846600hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38522898
hg19555700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952070
Supporting Variants
SamplesBILGI_BIOE
Known GenesCTU2, CYBA, IL17C, LOC100289580, MIR4722, MIR5189, MVD, PIEZO1, RNF166, SNAI3, SNAI3-AS1, ZC3H18, ZFPM1, ZNF469
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000189
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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