A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077034



Internal ID19321166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30812183..30812884hg38UCSC Ensembl
chr8:30669699..30670400hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770388
SamplesKWP1
Known GenesPPP2CB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077034
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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