A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122064



Internal ID18916630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47578710..47579010hg38UCSC Ensembl
Outerchr3:47620200..47620500hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969499
SamplesKWS2
Known GenesCSPG5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122064
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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