A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362659



Internal ID22144128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7101128..7101128hg38UCSC Ensembl
chr12:7253724..7253724hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560092
Supporting Variants
SamplesHG00514
Known GenesC1RL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362659
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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