A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362605



Internal ID22305550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6227195..6227195hg38UCSC Ensembl
chr12:6336361..6336361hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560087
Supporting Variants
SamplesNA19240
Known GenesCD9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362605
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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