A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987628



Internal ID18871310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243673508..243673583hg38UCSC Ensembl
Outerchr1:243836810..243836885hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132835
Supporting Variants
SamplesKWS1
Known GenesAKT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987628
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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