A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250242



Internal ID21307128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18439664..18460927hg38UCSC Ensembl
Outerchr6:18430356..18460935hg38UCSC Ensembl
Innerchr6:18439895..18461158hg19UCSC Ensembl
Outerchr6:18430587..18461166hg19UCSC Ensembl
Innerchr6:18547874..18569137hg18UCSC Ensembl
Outerchr6:18538566..18569145hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3830580
hg1930580
hg1830580
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169501
Supporting Variants
SamplesNGO_32
Known GenesRNF144B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250242
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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