A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000546



Internal ID19089763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178692748..178705041hg38UCSC Ensembl
Innerchr1:178661883..178674176hg19UCSC Ensembl
Innerchr1:176928506..176940799hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3812294
hg1912294
hg1812294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv468n100
Supporting Variantsnssv3500619
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000546
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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