A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998323



Internal ID19157859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741937..196819940hg38UCSC Ensembl
Innerchr1:196711067..196789070hg19UCSC Ensembl
Innerchr1:194977690..195055693hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878004
hg1978004
hg1878004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv507n100
Supporting Variantsnssv3492905, nssv3498462, nssv3491753
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998323
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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