A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001292



Internal ID19090509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168414178..168440571hg38UCSC Ensembl
Innerchr2:169270688..169297081hg19UCSC Ensembl
Innerchr2:168978934..169005327hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3826394
hg1926394
hg1826394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4102n100
Supporting Variantsnssv3583015, nssv3583014
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)nsv1001292
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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