A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271496



Internal ID22186858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:88087015..88161445hg38UCSC Ensembl
Outerchr3:88136165..88210595hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3874431
hg1974431
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206335
Supporting Variants
SamplesHG00731
Known GenesC3orf38, CGGBP1, ZNF654
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271496
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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