A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248893



Internal ID21305977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:136084814..136144462hg38UCSC Ensembl
Outerchr4:136084597..136151817hg38UCSC Ensembl
Innerchr4:137005969..137065617hg19UCSC Ensembl
Outerchr4:137005752..137072972hg19UCSC Ensembl
Innerchr4:137225419..137285067hg18UCSC Ensembl
Outerchr4:137225202..137292422hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3867221
hg1967221
hg1867221
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169442
Supporting Variants
SamplesNGO_24
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248893
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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