A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998583



Internal ID19158119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47766459..47851205hg38UCSC Ensembl
Innerchr1:48232131..48316877hg19UCSC Ensembl
Innerchr1:48004718..48089464hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3884747
hg1984747
hg1884747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464054, nssv3466328
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)nsv998583
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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