A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999001



Internal ID18840745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94954080..94954164hg38UCSC Ensembl
Outerchr5:94289784..94289868hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151822
Supporting Variants
SamplesKWB1
Known GenesMCTP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999001
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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