A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003161



Internal ID19092379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47742043..47820891hg38UCSC Ensembl
Innerchr1:48207715..48286563hg19UCSC Ensembl
Innerchr1:47980302..48059150hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3878849
hg1978849
hg1878849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700658
Samples
Known GenesTRABD2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003161
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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