A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010442



Internal ID18752973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126610104..126669480hg38UCSC Ensembl
Innerchr3:126328947..126388323hg19UCSC Ensembl
Innerchr3:127811637..127871013hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3859377
hg1959377
hg1859377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4852n100
Supporting Variantsnssv3736412
Samples
Known GenesNUP210P1, TXNRD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010442
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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