A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008000



Internal ID18750531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1306835..1379057hg38UCSC Ensembl
Innerchr1:1242215..1314437hg19UCSC Ensembl
Innerchr1:1232078..1304300hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3872223
hg1972223
hg1872223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7n100
Supporting Variantsnssv3476232
Samples
Known GenesACAP3, AURKAIP1, 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)nsv1008000
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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