A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443639



Internal ID22239724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97482677..97482677hg38UCSC Ensembl
chr12:97876455..97876455hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543747
Supporting Variants
SamplesHG00733
Known GenesRMST
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443639
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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