A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531047



Internal ID18482642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60934305..61080658hg38UCSC Ensembl
Innerchr14:61401023..61547376hg19UCSC Ensembl
Innerchr14:60470776..60617129hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38146354
hg19146354
hg18146354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049936
Supporting Variants
Samples
Known GenesMNAT1, SLC38A6, TRMT5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531047
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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