A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116247



Internal ID18928073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2678224..2678274hg38UCSC Ensembl
Outerchr18:2678222..2678272hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954598
SamplesKWS1
Known GenesSMCHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116247
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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