A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989978



Internal ID18881402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:30387111..30387411hg38UCSC Ensembl
Outerchr22:30783100..30783400hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136354
Supporting Variants
SamplesKWS2
Known GenesRNF215
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989978
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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