A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004166



Internal ID19093383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126877103..126914567hg38UCSC Ensembl
Innerchr2:127634679..127672143hg19UCSC Ensembl
Innerchr2:127351149..127388613hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3837465
hg1937465
hg1837465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580717
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004166
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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