A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712962



Internal ID16006918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47551395..47597678hg38UCSC Ensembl
Innerchr1:48017067..48063350hg19UCSC Ensembl
Innerchr1:47789654..47835937hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3846284
hg1946284
hg1846284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546190
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712962
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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