A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006272



Internal ID18748803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88932165..88995971hg38UCSC Ensembl
Innerchr1:89397848..89461654hg19UCSC Ensembl
Innerchr1:89170436..89234242hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3863807
hg1963807
hg1863807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv207n100
Supporting Variantsnssv3466804
Samples
Known GenesCCBL2, RBMXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006272
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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