A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542598



Internal ID22411676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31429636..31429636hg38UCSC Ensembl
chr1:31902483..31902483hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440569, nssv14413546
SamplesHG00733, HG00514
Known GenesSERINC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542598
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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