A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3504263



Internal ID18455858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:79884324..80085110hg38UCSC Ensembl
Innerchr10:81644080..81844866hg19UCSC Ensembl
Innerchr10:81634060..81834846hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38200787
hg19200787
hg18200787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1037922
Supporting Variants
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)nssv3504263
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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