A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606828



Internal ID16394237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44960916..44969364hg38UCSC Ensembl
Innerchr7:45000515..45008963hg19UCSC Ensembl
Innerchr7:44967040..44975488hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg388449
hg198449
hg188449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083632
Samples
Known GenesMYO1G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606828
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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