A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121913



Internal ID19272563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48474989..48477489hg38UCSC Ensembl
Outerchr16:48508900..48511400hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968577
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121913
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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