A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767321



Internal ID19310014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119075655..119075918hg38UCSC Ensembl
chr12:119513460..119513723hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1069698
Supporting Variants
SamplesKWP1
Known GenesSRRM4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767321
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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