A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075174



Internal ID18976385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139702056..139706357hg38UCSC Ensembl
chr8:140714299..140718600hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384302
hg194302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772704
SamplesKWP1
Known GenesKCNK9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075174
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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