A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3766565



Internal ID18958383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113462694..113463095hg38UCSC Ensembl
chr12:113900499..113900900hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071055
Supporting Variants
SamplesKWP1
Known GenesLHX5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3766565
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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