A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119500



Internal ID19258895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:30175165..30175238hg38UCSC Ensembl
Outerchr22:30571154..30571227hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959944
SamplesKWS1
Known GenesHORMAD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119500
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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