A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004900



Internal ID18747431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198516035..198549828hg38UCSC Ensembl
Innerchr1:198485165..198518958hg19UCSC Ensembl
Innerchr1:196751788..196785581hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3833794
hg1933794
hg1833794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489285
Samples
Known GenesATP6V1G3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004900
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