A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999302



Internal ID19158838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127614504hg38UCSC Ensembl
Innerchr2:128299079..128372079hg19UCSC Ensembl
Innerchr2:128015549..128088549hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3873002
hg1973001
hg1873001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4067n100
Supporting Variantsnssv3580784, nssv3580785
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)nsv999302
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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