A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987709



Internal ID18858624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:33565612..33565672hg38UCSC Ensembl
Outerchr22:33961598..33961658hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132915
Supporting Variants
SamplesKWS1
Known GenesLARGE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987709
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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