A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999209



Internal ID19158745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829423..196843388hg38UCSC Ensembl
Innerchr1:196798553..196812518hg19UCSC Ensembl
Innerchr1:195065176..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3813966
hg1913966
hg1813966
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv549n100
Supporting Variantsnssv3501663, nssv3705443, nssv3497344, nssv3489650, nssv3496016, nssv3705442, nssv3492948, nssv3495472, nssv3488244, nssv3495630, nssv3705441
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)nsv999209
Frequency
Sample Size11257
Observed Gain8
Observed Loss3
Observed Complex0
Frequencyn/a


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