A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329075



Internal ID22322282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52472636..52472690hg38UCSC Ensembl
chr6:52337434..52337488hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196862
Supporting Variants
SamplesNA19240
Known GenesEFHC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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