A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131658



Internal ID18936449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38522452..38522518hg38UCSC Ensembl
Outerchr22:38918457..38918523hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986143
SamplesKWS1
Known GenesDMC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131658
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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