A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993257



Internal ID19230478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240184927..240185005hg38UCSC Ensembl
Outerchr1:240348227..240348305hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141751
Supporting Variants
SamplesKWS2
Known GenesFMN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993257
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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