A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222523



Internal ID22366576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1420319..1435545hg38UCSC Ensembl
Outerchr1:1355699..1370925hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n152
Supporting Variantsnssv14259689, nssv14259690, nssv14259688, nssv14259686, nssv14259687
SamplesHG00512, NA19238, NA19240, HG00733, HG00514
Known GenesANKRD65, TMEM88B, VWA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222523
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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