A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768814



Internal ID18962865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27281067..27281401hg38UCSC Ensembl
chr12:27434000..27434334hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070100
Supporting Variants
SamplesKWP1
Known GenesSTK38L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768814
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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