A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011176



Internal ID19100393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196843365..196917640hg38UCSC Ensembl
Innerchr1:196812495..196886770hg19UCSC Ensembl
Innerchr1:195079118..195153393hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3874276
hg1974276
hg1874276
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv553n100
Supporting Variantsnssv3491761, nssv3498426
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011176
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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