A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231389



Internal ID22372214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41079181..41174357hg38UCSC Ensembl
Outerchr17:39235433..39330609hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260643, nssv14260650, nssv14260646, nssv14260647, nssv14260645, nssv14260649, nssv14260644, nssv14260648
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesKRTAP4-11, KRTAP4-12, KRTAP4-3, KRTAP4-4, KRTAP4-5, KRTAP4-6, KRTAP4-7, KRTAP4-8, KRTAP4-9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231389
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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