A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3477222



Internal ID18720760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1306835..1362354hg38UCSC Ensembl
Innerchr1:1242215..1297734hg19UCSC Ensembl
Innerchr1:1232078..1287597hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3855520
hg1955520
hg1855520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007042
Supporting Variants
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3477222
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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