A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059548



Internal ID18802079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82984903..83091923hg38UCSC Ensembl
Innerchr17:80942779..81049725hg19UCSC Ensembl
Innerchr17:78536068..78643088hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38107021
hg19106947
hg18107021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3298n100
Supporting Variantsnssv3567909
Samples
Known GenesB3GNTL1, METRNL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059548
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer