A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222431



Internal ID22366508
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255514, nssv14255515, nssv14255516
SamplesNA19238, NA19239, NA19240
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)nsv3222431
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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