A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610972



Internal ID16398381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375062..39532700hg38UCSC Ensembl
Innerchr8:39232581..39390219hg19UCSC Ensembl
Innerchr8:39351738..39509376hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38157639
hg19157639
hg18157639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12095n54
Supporting Variantsnssv1110436
Samples
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610972
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