A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14351933



Internal ID22161702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17437669..17437669hg38UCSC Ensembl
chr1:17764165..17764165hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561907
Supporting Variants
SamplesHG00514
Known GenesRCC2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14351933
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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