A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969499



Internal ID18881780
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 StatusS
Merged Variantsnsv1122064
Supporting Variants
SamplesKWS2
Known GenesCSPG5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969499
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer