A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265206



Internal ID22254674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237539918..237575679hg38UCSC Ensembl
Outerchr2:238448561..238484322hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227060
Supporting Variants
SamplesNA19238
Known GenesMLPH, PRLH, RAB17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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