A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010371



Internal ID19099588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184694764..184740436hg38UCSC Ensembl
Innerchr1:184663898..184709570hg19UCSC Ensembl
Innerchr1:182930521..182976193hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3845673
hg1945673
hg1845673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv478n100
Supporting Variantsnssv3493214
Samples
Known GenesEDEM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010371
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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