A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007172



Internal ID19096390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49126162..49192745hg38UCSC Ensembl
Innerchr1:49591834..49658417hg19UCSC Ensembl
Innerchr1:49364421..49431004hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3866584
hg1966584
hg1866584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv161n100
Supporting Variantsnssv3475071
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)nsv1007172
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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