A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051203



Internal ID18793734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79884324..80099035hg38UCSC Ensembl
Innerchr10:81644080..81858791hg19UCSC Ensembl
Innerchr10:81634060..81848771hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38214712
hg19214712
hg18214712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv941n100
Supporting Variantsnssv3513651
Samples
Known GenesLOC100288974, MBL1P, SFTPD, TMEM254, TMEM254-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051203
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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