A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248144



Internal ID21308063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127977878..128140797hg38UCSC Ensembl
Outerchr4:127970650..128146592hg38UCSC Ensembl
Innerchr4:128899033..129061952hg19UCSC Ensembl
Outerchr4:128891805..129067747hg19UCSC Ensembl
Innerchr4:129118483..129281402hg18UCSC Ensembl
Outerchr4:129111255..129287197hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38175943
hg19175943
hg18175943
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170025
Supporting Variants
SamplesNGO_4
Known GenesC4orf29, LARP1B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248144
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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