A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000998



Internal ID19090215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196854175hg38UCSC Ensembl
Innerchr1:196738611..196823305hg19UCSC Ensembl
Innerchr1:195005234..195089928hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884695
hg1984695
hg1884695
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv526n100
Supporting Variantsnssv3502562, nssv3491392, nssv3488668, nssv3486635, nssv3498503, nssv3484994, nssv3488374, nssv3498134, nssv3492335, nssv3487877, nssv3491187
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000998
Frequency
Sample Size11257
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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