A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255514



Internal ID22255291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10394564..10483347hg38UCSC Ensembl
Outerchr12:10547163..10635946hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3888784
hg1988784
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222431
Supporting Variants
SamplesNA19238
Known GenesKLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255514
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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