A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273305



Internal ID22279880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69590993..71036875hg38UCSC Ensembl
Outerchr5:68886820..70332702hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381445883
hg191445883
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198310
Supporting Variants
SamplesNA19239
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273305
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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