A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961533



Internal ID19218447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43737220..43738620hg38UCSC Ensembl
Outerchr22:44133100..44134500hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128864
Supporting Variants
SamplesKWS1
Known GenesEFCAB6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961533
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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