A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271105



Internal ID22121155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183544639..183702046hg38UCSC Ensembl
Outerchr3:183262427..183419834hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38157408
hg19157408
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198995
Supporting Variants
SamplesHG00512
Known GenesKLHL24, KLHL6, YEATS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271105
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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