A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002689



Internal ID18845132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8563326..8564968hg38UCSC Ensembl
Outerchr16:8613328..8614970hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149179
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002689
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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