A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074840



Internal ID18972734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70404172..70424073hg38UCSC Ensembl
chr5:69699999..69719900hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3819902
hg1919902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765741
SamplesKWP1
Known GenesGTF2H2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074840
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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