A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489533



Internal ID19077174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232457582..232493729hg38UCSC Ensembl
Innerchr1:232593328..232629475hg19UCSC Ensembl
Innerchr1:230659951..230696098hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3836148
hg1936148
hg1836148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009845
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)nssv3489533
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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