A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003129



Internal ID19092346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111933693..112059117hg38UCSC Ensembl
Innerchr2:112691270..112816694hg19UCSC Ensembl
Innerchr2:112407741..112533165hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125425
hg19125425
hg18125425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4053n100
Supporting Variantsnssv3580235
Samples
Known GenesMERTK, TMEM87B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003129
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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