A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243731



Internal ID21306335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72022861..72044359hg38UCSC Ensembl
Outerchr2:72014374..72051830hg38UCSC Ensembl
Innerchr2:72249991..72271489hg19UCSC Ensembl
Outerchr2:72241504..72278960hg19UCSC Ensembl
Innerchr2:72103499..72124997hg18UCSC Ensembl
Outerchr2:72095012..72132468hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3837457
hg1937457
hg1837457
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169553
Supporting Variants
SamplesNGO_27
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243731
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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