A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532660



Internal ID22401986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215007125..215007125hg38UCSC Ensembl
chr1:215180468..215180468hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414815
SamplesHG00514
Known GenesKCNK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532660
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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