A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030172



Internal ID18772703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82194712..82228577hg38UCSC Ensembl
Innerchr7:81824028..81857893hg19UCSC Ensembl
Innerchr7:81661964..81695829hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3833866
hg1933866
hg1833866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3755418
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030172
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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