A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033347



Internal ID18775881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143367285..143378410hg38UCSC Ensembl
Innerchr4:144288438..144299563hg19UCSC Ensembl
Innerchr4:144507888..144519013hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3811126
hg1911126
hg1811126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5411n100
Supporting Variantsnssv3641198
Samples
Known GenesGAB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033347
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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