A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010784



Internal ID18753316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39437476..39571758hg38UCSC Ensembl
Innerchr4:39439096..39573378hg19UCSC Ensembl
Innerchr4:39115491..39249773hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38134283
hg19134283
hg18134283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739353
Samples
Known GenesKLB, LIAS, LOC401127, MIR1273H, RPL9, SMIM14, UGDH, UGDH-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010784
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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