A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607694



Internal ID16048417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82163868..82176341hg38UCSC Ensembl
Innerchr7:81793184..81805657hg19UCSC Ensembl
Innerchr7:81631120..81643593hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3812474
hg1912474
hg1812474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1089227
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607694
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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