A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077025



Internal ID18973959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19479761..19479831hg38UCSC Ensembl
chr8:19337272..19337342hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762000
SamplesKWP1
Known GenesCSGALNACT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077025
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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