A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242992



Internal ID21305774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157545672..157547419hg38UCSC Ensembl
Outerchr7:157544783..157557990hg38UCSC Ensembl
Innerchr7:157338366..157340113hg19UCSC Ensembl
Outerchr7:157337477..157350684hg19UCSC Ensembl
Innerchr7:157031127..157032874hg18UCSC Ensembl
Outerchr7:157030238..157043445hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3813208
hg1913208
hg1813208
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169639
Supporting Variants
SamplesNGO_23
Known GenesPTPRN2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242992
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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