A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005799



Internal ID18748330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127605680hg38UCSC Ensembl
Innerchr2:128299079..128363255hg19UCSC Ensembl
Innerchr2:128015549..128079725hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3864178
hg1964177
hg1864177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4067n100
Supporting Variantsnssv3580779, nssv3580778, nssv3580780, nssv3580777
Samples
Known GenesMYO7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005799
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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