A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534956



Internal ID22404221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139726624..139726624hg38UCSC Ensembl
chr4:140647778..140647778hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38913
hg19913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425409
SamplesHG00514
Known GenesMAML3, MGST2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3534956
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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