A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611040



Internal ID16398449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39403008..39520881hg38UCSC Ensembl
Innerchr8:39260527..39378400hg19UCSC Ensembl
Innerchr8:39379684..39497557hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38117874
hg19117874
hg18117874
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12094n54
Supporting Variantsnssv1111174, nssv1111164, nssv1111171, nssv1111173, nssv1111168, nssv1111167, nssv1111166, nssv1111170, nssv1111165, nssv1111169, nssv1111172
Samples
Known GenesADAM3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611040
Frequency
Sample Size17421
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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