A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246541



Internal ID21307200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:164441227..164468859hg38UCSC Ensembl
Outerchr5:164435748..164472746hg38UCSC Ensembl
Innerchr5:163868233..163895865hg19UCSC Ensembl
Outerchr5:163862754..163899752hg19UCSC Ensembl
Innerchr5:163800811..163828443hg18UCSC Ensembl
Outerchr5:163795332..163832330hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3836999
hg1936999
hg1836999
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170088
Supporting Variants
SamplesNGO_32
Known GenesLOC101927835, LOC102546299
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246541
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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