A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121183



Internal ID19249365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59590946..59591284hg38UCSC Ensembl
Outerchr18:57258178..57258516hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1617n106
Supporting Variantsnssv3989363, nssv3989075
SamplesKWS2, KWS1
Known GenesCCBE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121183
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer