A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3472042



Internal ID19064768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79761225..80066448hg38UCSC Ensembl
Innerchr1:80226910..80532133hg19UCSC Ensembl
Innerchr1:79999498..80304721hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38305224
hg19305224
hg18305224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011192
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)nssv3472042
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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