A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074837



Internal ID18970674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69584872..69585273hg38UCSC Ensembl
chr5:68880699..68881100hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768111
SamplesKWP1
Known GenesGTF2H2C, GTF2H2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074837
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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