A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648109



Internal ID18946390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130617231..130731548hg38UCSC Ensembl
Innerchr5:129952924..130067241hg19UCSC Ensembl
Innerchr5:129980823..130095140hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38114318
hg19114318
hg18114318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030864
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648109
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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