A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133546



Internal ID18929010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48497388..48498188hg38UCSC Ensembl
Outerchr22:48893200..48894000hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969490, nssv3994747
SamplesKWS2, KWS1
Known GenesFAM19A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133546
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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