A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057220



Internal ID18799751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:77173514..78528435hg38UCSC Ensembl
Innerchr18:74885470..76288435hg19UCSC Ensembl
Innerchr18:73014458..74389423hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381354922
hg191402966
hg181374966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3407n100
Supporting Variantsnssv3723238
Samples
Known GenesGALR1, LINC01029
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057220
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