A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524996



Internal ID22394371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65613471..65613763hg38UCSC Ensembl
chr1:66079154..66079446hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368667, nssv14368670, nssv14368666, nssv14368668, nssv14368669
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known GenesLEPR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524996
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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