A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989762



Internal ID18887801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114668795..114672895hg38UCSC Ensembl
Outerchr12:115106600..115110700hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136156
Supporting Variants
SamplesKWS2
Known GenesTBX3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989762
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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