A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271520



Internal ID22187132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:173611259..173671954hg38UCSC Ensembl
Outerchr3:173329049..173389744hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3860696
hg1960696
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206078
Supporting Variants
SamplesHG00731
Known GenesNLGN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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