A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001446



Internal ID19090663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196832300hg38UCSC Ensembl
Innerchr1:196738611..196801430hg19UCSC Ensembl
Innerchr1:195005234..195068053hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3862820
hg1962820
hg1862820
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3703397, nssv3496568, nssv3498369, nssv3502481, nssv3483158, nssv3483857, nssv3500908, nssv3484398, nssv3502087
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)nsv1001446
Frequency
Sample Size11257
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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