A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059991



Internal ID18802522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76802292..76896772hg38UCSC Ensembl
Innerchr17:74798374..74892854hg19UCSC Ensembl
Innerchr17:72309969..72404449hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3894481
hg1994481
hg1894481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567810
Samples
Known GenesMGAT5B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059991
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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