A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969486



Internal ID19241170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42340494..42344394hg38UCSC Ensembl
Outerchr22:42736500..42740400hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122055
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969486
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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