A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131664



Internal ID18914662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44094520..44095114hg38UCSC Ensembl
Outerchr22:44490400..44490994hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986150
SamplesKWS1
Known GenesPARVB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131664
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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