A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002191



Internal ID18744723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:26149030..26219160hg38UCSC Ensembl
Innerchr1:26475521..26545651hg19UCSC Ensembl
Innerchr1:26348108..26418238hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3870131
hg1970131
hg1870131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464989
Samples
Known GenesCATSPER4, CNKSR1, FAM110D, ZNF593
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002191
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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