A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118357



Internal ID19269047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81444495..81447295hg38UCSC Ensembl
Outerchr16:81478100..81480900hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981038
SamplesKWS1
Known GenesCMIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118357
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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