A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485100



Internal ID19072741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115693325..115742032hg38UCSC Ensembl
Innerchr1:116235946..116284653hg19UCSC Ensembl
Innerchr1:116037469..116086176hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3848708
hg1948708
hg1848708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000760
Supporting Variants
Samples
Known GenesCASQ2, VANGL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485100
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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