A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763327



Internal ID18966969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4910489..4910542hg38UCSC Ensembl
chr12:5019655..5019708hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070503
Supporting Variants
SamplesKWP1
Known GenesKCNA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763327
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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