A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003994



Internal ID19093211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829423..196854175hg38UCSC Ensembl
Innerchr1:196798553..196823305hg19UCSC Ensembl
Innerchr1:195065176..195089928hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3824753
hg1924753
hg1824753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv550n100
Supporting Variantsnssv3486042
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)nsv1003994
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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