A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261665



Internal ID22119668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27074447..27107670hg38UCSC Ensembl
Outerchr1:27400938..27434161hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382584
hg192584
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210537
Supporting Variants
SamplesHG00512
Known GenesSLC9A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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