A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580750



Internal ID18532345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127534614..127594457hg38UCSC Ensembl
Innerchr2:128292190..128352032hg19UCSC Ensembl
Innerchr2:128008660..128068502hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3859844
hg1959843
hg1859843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998519
Supporting Variants
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)nssv3580750
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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