A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545719



Internal ID15986442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18873686..18881699hg38UCSC Ensembl
Innerchr1:19200180..19208193hg19UCSC Ensembl
Innerchr1:19072767..19080780hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg388014
hg198014
hg188014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv711247
Samples
Known GenesALDH4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545719
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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