A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008707



Internal ID19097924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49443456..49536306hg38UCSC Ensembl
Innerchr1:49909128..50001978hg19UCSC Ensembl
Innerchr1:49681715..49774565hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3892851
hg1992851
hg1892851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163n100
Supporting Variantsnssv3700663
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)nsv1008707
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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