A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006055



Internal ID18748586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232384425..232406159hg38UCSC Ensembl
Innerchr2:233249135..233270869hg19UCSC Ensembl
Innerchr2:232957379..232979113hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3821735
hg1921735
hg1821735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4186n100
Supporting Variantsnssv3586897, nssv3586896, nssv3586898
Samples
Known GenesECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006055
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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