A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3664250



Internal ID18962531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140343499..140420746hg38UCSC Ensembl
Innerchr7:140043299..140120546hg19UCSC Ensembl
Innerchr7:139689768..139767015hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3877248
hg1977248
hg1877248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022919
Supporting Variants
Samples
Known GenesRAB19, SLC37A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3664250
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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