A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142580



Internal ID18935014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29818417..29818511hg38UCSC Ensembl
Outerchr22:30214406..30214500hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994067
SamplesKWS1
Known GenesASCC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142580
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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