A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765488



Internal ID19315086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56993440..56994241hg38UCSC Ensembl
chr8:57905999..57906800hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1075553
Supporting Variants
SamplesKWP1
Known GenesIMPAD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765488
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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