A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138593



Internal ID18912690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2736603..2736655hg38UCSC Ensembl
Outerchr18:2736601..2736653hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991183
SamplesKWS2
Known GenesSMCHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138593
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