A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239971



Internal ID22374574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1738577..1742509hg38UCSC Ensembl
Outerchr17:1641871..1645803hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg384635
hg194635
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261192, nssv14261191
SamplesHG00512, HG00731
Known GenesWDR81
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239971
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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