A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958589



Internal ID19218048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6464548..6464616hg38UCSC Ensembl
Outerchr7:6504179..6504247hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128298
Supporting Variants
SamplesKWS1
Known GenesKDELR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958589
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