A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999746



Internal ID19159282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111933693..112038506hg38UCSC Ensembl
Innerchr2:112691270..112796083hg19UCSC Ensembl
Innerchr2:112407741..112512554hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38104814
hg19104814
hg18104814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4053n100
Supporting Variantsnssv3580234
Samples
Known GenesMERTK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999746
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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