A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978456



Internal ID18862378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3054438..3054542hg38UCSC Ensembl
Outerchr16:3104439..3104543hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115893
Supporting Variants
SamplesKWS1
Known GenesMMP25
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978456
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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