A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546706



Internal ID15987429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200587..85201622hg38UCSC Ensembl
Innerchr1:85666270..85667305hg19UCSC Ensembl
Innerchr1:85438858..85439893hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381036
hg191036
hg181036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718452, nssv718450, nssv718451
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546706
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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