A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3496882



Internal ID19084523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196821388..196832513hg38UCSC Ensembl
Innerchr1:196790518..196801643hg19UCSC Ensembl
Innerchr1:195057141..195068266hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811126
hg1911126
hg1811126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000933
Supporting Variants
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3496882
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