A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972178



Internal ID19241204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63089986..63090079hg38UCSC Ensembl
Outerchr18:60757219..60757312hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123184
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972178
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