A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251531



Internal ID21308048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53204794..53214075hg38UCSC Ensembl
Outerchr4:53200838..53220572hg38UCSC Ensembl
Innerchr4:54070961..54080242hg19UCSC Ensembl
Outerchr4:54067005..54086739hg19UCSC Ensembl
Innerchr4:53765718..53774999hg18UCSC Ensembl
Outerchr4:53761762..53781496hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3819735
hg1919735
hg1819735
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170079
Supporting Variants
SamplesNGO_39
Known GenesSCFD2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251531
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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