A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958478



Internal ID18875593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37224448..37224515hg38UCSC Ensembl
Outerchr6:37192224..37192291hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128228
Supporting Variants
SamplesKWS1
Known GenesTMEM217
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958478
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