A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610975



Internal ID16398384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375220..39385362hg38UCSC Ensembl
Innerchr8:39232739..39242881hg19UCSC Ensembl
Innerchr8:39351896..39362038hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3810143
hg1910143
hg1810143
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12098n54
Supporting Variantsnssv1110441, nssv1110443, nssv1110439, nssv1110442, nssv1110440
Samples
Known GenesADAM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610975
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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