A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114318



Internal ID18910241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:28781333..28781650hg38UCSC Ensembl
Outerchr22:29177321..29177638hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973824
SamplesKWS2
Known GenesCCDC117
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114318
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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