A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452065



Internal ID22219206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15350307..15350307hg38UCSC Ensembl
chr4:15351931..15351931hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3536964
Supporting Variants
SamplesHG00733
Known GenesC1QTNF7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452065
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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