A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004890



Internal ID18747421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108144811..108310650hg38UCSC Ensembl
Innerchr1:108687433..108853272hg19UCSC Ensembl
Innerchr1:108488956..108654795hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38165840
hg19165840
hg18165840
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489262
Samples
Known GenesNBPF4, SLC25A24
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004890
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