A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019753



Internal ID18762288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:81692852..82052256hg38UCSC Ensembl
Innerchr7:81322168..81681572hg19UCSC Ensembl
Innerchr7:81160104..81519508hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38359405
hg19359405
hg18359405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655147
Samples
Known GenesCACNA2D1, HGF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019753
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