A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075171



Internal ID19326238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135879156..135881357hg38UCSC Ensembl
chr8:136891399..136893600hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770700
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075171
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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