A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033442



Internal ID19122664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154267559..154301293hg38UCSC Ensembl
Innerchr5:153647119..153680853hg19UCSC Ensembl
Innerchr5:153627312..153661046hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3833735
hg1933735
hg1833735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5820n100
Supporting Variantsnssv3648190, nssv3648191, nssv3648192
Samples
Known GenesGALNT10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033442
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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