A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112727



Internal ID19283569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47930229..47931329hg38UCSC Ensembl
Outerchr18:45456600..45457700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994577, nssv3967218
SamplesKWS2, KWS1
Known GenesSMAD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112727
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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