A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956543



Internal ID18857772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29818403..29818459hg38UCSC Ensembl
Outerchr22:30214392..30214448hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127915
Supporting Variants
SamplesKWS1
Known GenesASCC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956543
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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