A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011438



Internal ID19100655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232459269..232493729hg38UCSC Ensembl
Innerchr1:232595015..232629475hg19UCSC Ensembl
Innerchr1:230661638..230696098hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3834461
hg1934461
hg1834461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n100
Supporting Variantsnssv3491209
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)nsv1011438
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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