A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014810



Internal ID19104027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196819844..196843388hg38UCSC Ensembl
Innerchr1:196788974..196812518hg19UCSC Ensembl
Innerchr1:195055597..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3823545
hg1923545
hg1823545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv546n100
Supporting Variantsnssv3489949, nssv3496931
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)nsv1014810
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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