A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007023



Internal ID18749554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236144578..236267713hg38UCSC Ensembl
Innerchr1:236307878..236431013hg19UCSC Ensembl
Innerchr1:234374501..234497636hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38123136
hg19123136
hg18123136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv590n100
Supporting Variantsnssv3483919, nssv3484663
Samples
Known GenesERO1LB, GPR137B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007023
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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