A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3705530



Internal ID18657125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232341238..232458244hg38UCSC Ensembl
Innerchr1:232476984..232593990hg19UCSC Ensembl
Innerchr1:230543607..230660613hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38117007
hg19117007
hg18117007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006763
Supporting Variants
Samples
Known GenesSIPA1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3705530
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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