A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001780



Internal ID18744311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127606551hg38UCSC Ensembl
Innerchr2:128299079..128364126hg19UCSC Ensembl
Innerchr2:128015549..128080596hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3865049
hg1965048
hg1865048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4067n100
Supporting Variantsnssv3580783
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)nsv1001780
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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