A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994748



Internal ID19221344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48575288..48577588hg38UCSC Ensembl
Outerchr22:48971100..48973400hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144033
Supporting Variants
SamplesKWS1
Known GenesFAM19A5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994748
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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