A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248507



Internal ID21312145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227365993..227368837hg38UCSC Ensembl
Outerchr2:227361683..227373182hg38UCSC Ensembl
Innerchr2:228230709..228233553hg19UCSC Ensembl
Outerchr2:228226399..228237898hg19UCSC Ensembl
Innerchr2:227938953..227941797hg18UCSC Ensembl
Outerchr2:227934643..227946142hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3811500
hg1911500
hg1811500
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169837
Supporting Variants
SamplesSNI_15
Known GenesTM4SF20
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248507
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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