A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231678



Internal ID22372299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137325289..137364084hg38UCSC Ensembl
Outerchr9:140219741..140258536hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384626
hg194626
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253158
SamplesHG00514
Known GenesEXD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231678
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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