A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004621



Internal ID19093838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196874041..196888306hg38UCSC Ensembl
Innerchr1:196843171..196857436hg19UCSC Ensembl
Innerchr1:195109794..195124059hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3814266
hg1914266
hg1814266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv557n100
Supporting Variantsnssv3488593
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004621
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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