A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011443



Internal ID18753977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226671754..226856909hg38UCSC Ensembl
Innerchr2:227536470..227721625hg19UCSC Ensembl
Innerchr2:227244714..227429869hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38185156
hg19185156
hg18185156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n100
Supporting Variantsnssv3586836
Samples
Known GenesIRS1, RHBDD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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