A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109142



Internal ID19267838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31150102..31150411hg38UCSC Ensembl
Outerchr18:28730065..28730374hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954997
SamplesKWS1
Known GenesDSC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109142
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