A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560539



Internal ID22429336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76496401..76496401hg38UCSC Ensembl
chr14:76962744..76962744hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372210, nssv14372212, nssv14372211
SamplesHG00512, HG00732, HG00514
Known GenesESRRB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560539
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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