A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260645



Internal ID22145406
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231389
Supporting Variants
SamplesHG00514
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)nssv14260645
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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