A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560092



Internal ID22428887
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362662, nssv14362660, nssv14362659, nssv14362661, nssv14362663, nssv14362658
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00514
Known GenesC1RL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560092
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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