A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242895



Internal ID22375414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76039695..76074992hg38UCSC Ensembl
Outerchr17:74035776..74071073hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383677
hg193677
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261424, nssv14261425, nssv14261423, nssv14261430, nssv14261429, nssv14261422, nssv14261426, nssv14261427, nssv14261428
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGALR2, SRP68
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242895
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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