A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583664



Internal ID16371073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172424511..172443028hg38UCSC Ensembl
Innerchr2:173289239..173307756hg19UCSC Ensembl
Innerchr2:172997485..173016002hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3818518
hg1918518
hg1818518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7172n54
Supporting Variantsnssv925606, nssv925607
Samples
Known GenesITGA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583664
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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