A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169942



Internal ID21314003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172653533..172735933hg38UCSC Ensembl
Outerchr5:172645840..172739256hg38UCSC Ensembl
Innerchr5:172080536..172162936hg19UCSC Ensembl
Outerchr5:172072843..172166259hg19UCSC Ensembl
Innerchr5:172013141..172095541hg18UCSC Ensembl
Outerchr5:172005448..172098864hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3893417
hg1993417
hg1893417
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14243087, nssv14250659
SamplesNGO_47, NGO_49
Known GenesNEURL1B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169942
Frequency
Sample Size93
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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