A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967355



Internal ID18882638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88477149..88477649hg38UCSC Ensembl
Outerchr4:89398300..89398800hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112857
Supporting Variants
SamplesKWS2
Known GenesHERC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967355
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