A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048346



Internal ID19137565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44115293..44165793hg38UCSC Ensembl
Innerchr13:44689429..44739929hg19UCSC Ensembl
Innerchr13:43587429..43637929hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3850501
hg1950501
hg1850501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523423
Samples
Known GenesSMIM2, SMIM2-AS1, SMIM2-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048346
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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