A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968819



Internal ID18897082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110482605..110482668hg38UCSC Ensembl
Outerchr12:110920410..110920473hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113519
Supporting Variants
SamplesKWS2
Known GenesFAM216A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968819
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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