A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557803



Internal ID22426608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51982175..51982175hg38UCSC Ensembl
chr6:51846973..51846973hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426881
SamplesHG00514
Known GenesPKHD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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