A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607930



Internal ID16048653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99927618..100004568hg38UCSC Ensembl
Innerchr7:99525241..99602191hg19UCSC Ensembl
Innerchr7:99363177..99440127hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3876951
hg1976951
hg1876951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1091649
Samples
Known GenesAZGP1, AZGP1P1, GJC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607930
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