A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030447



Internal ID18772978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72905772..72988046hg38UCSC Ensembl
Innerchr7:72376309..72458575hg19UCSC Ensembl
Innerchr7:72014245..72096511hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3882275
hg1982267
hg1882267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656484
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, POM121, TRIM73, TRIM74
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030447
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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