A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293897



Internal ID22326717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85316092..85343767hg38UCSC Ensembl
chr2:85543215..85570890hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3827676
hg1927676
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250054
Supporting Variants
SamplesNA19240
Known GenesRETSAT, TGOLN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293897
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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