A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001939



Internal ID18744470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127537744..127606033hg38UCSC Ensembl
Innerchr2:128295320..128363608hg19UCSC Ensembl
Innerchr2:128011790..128080078hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3868290
hg1968289
hg1868289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4067n100
Supporting Variantsnssv3580760
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)nsv1001939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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