A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029122



Internal ID18771654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155773161..156031641hg38UCSC Ensembl
Innerchr4:156694313..156952793hg19UCSC Ensembl
Innerchr4:156913763..157172243hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38258481
hg19258481
hg18258481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3744269
Samples
Known GenesASIC5, CTSO, GUCY1B3, TDO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029122
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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