A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008979



Internal ID19098197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202431040..202453860hg38UCSC Ensembl
Innerchr2:203295763..203318583hg19UCSC Ensembl
Innerchr2:203004008..203026828hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3822821
hg1922821
hg1822821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585540, nssv3585539
Samples
Known GenesBMPR2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008979
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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