A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261402



Internal ID22201786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74713086..74757462hg38UCSC Ensembl
Outerchr17:72709225..72753601hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246710
Supporting Variants
SamplesHG00732
Known GenesMIR3615, RAB37, SLC9A3R1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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