A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245867



Internal ID21305577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72014374..72044359hg38UCSC Ensembl
Outerchr2:72008558..72051830hg38UCSC Ensembl
Innerchr2:72241504..72271489hg19UCSC Ensembl
Outerchr2:72235688..72278960hg19UCSC Ensembl
Innerchr2:72095012..72124997hg18UCSC Ensembl
Outerchr2:72089196..72132468hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3843273
hg1943273
hg1843273
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169553
Supporting Variants
SamplesNGO_21
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245867
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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