A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065020



Internal ID18807551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49130326..49149675hg38UCSC Ensembl
Innerchr17:47207688..47227037hg19UCSC Ensembl
Innerchr17:44562687..44582036hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3819350
hg1919350
hg1819350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724975
Samples
Known GenesB4GALNT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065020
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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