A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252293



Internal ID21313121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231583884..231646803hg38UCSC Ensembl
Outerchr2:231576464..231662900hg38UCSC Ensembl
Innerchr2:232448595..232511514hg19UCSC Ensembl
Outerchr2:232441175..232527611hg19UCSC Ensembl
Innerchr2:232156839..232219758hg18UCSC Ensembl
Outerchr2:232149419..232235855hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3886437
hg1986437
hg1886437
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170317
Supporting Variants
SamplesSNI_7
Known GenesC2orf57
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14252293
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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