A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005391



Internal ID19094608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196778768..196843388hg38UCSC Ensembl
Innerchr1:196747898..196812518hg19UCSC Ensembl
Innerchr1:195014521..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3864621
hg1964621
hg1864621
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv526n100
Supporting Variantsnssv3482823, nssv3486941, nssv3496179, nssv3483574, nssv3501396, nssv3500622, nssv3486593
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)nsv1005391
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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