A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112691



Internal ID19281976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:50153189..50153789hg38UCSC Ensembl
Outerchr16:50187100..50187700hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984676, nssv3968578
SamplesKWS2, KWS1
Known GenesPAPD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112691
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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