A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004945



Internal ID19094162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49449248..49527554hg38UCSC Ensembl
Innerchr1:49914920..49993226hg19UCSC Ensembl
Innerchr1:49687507..49765813hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3878307
hg1978307
hg1878307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163n100
Supporting Variantsnssv3471548
Samples
Known GenesAGBL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004945
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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