A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546931



Internal ID16334340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102888582..102936628hg38UCSC Ensembl
Innerchr1:103354138..103402184hg19UCSC Ensembl
Innerchr1:103126726..103174772hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3848047
hg1948047
hg1848047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173074
SamplesNINDS_241
Known GenesCOL11A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546931
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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