A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273302



Internal ID22277566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69590993..70565621hg38UCSC Ensembl
Outerchr5:68886820..69861448hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38974629
hg19974629
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209090
Supporting Variants
SamplesNA19239
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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