A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989759



Internal ID19236599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109309195..109310295hg38UCSC Ensembl
Outerchr12:109747000..109748100hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136154
Supporting Variants
SamplesKWS2
Known GenesFOXN4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989759
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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