A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545738



Internal ID15986461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21799836..21831870hg38UCSC Ensembl
Innerchr1:22126329..22158363hg19UCSC Ensembl
Innerchr1:21998916..22030950hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3832035
hg1932035
hg1832035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv711289
Samples
Known GenesHSPG2, LDLRAD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545738
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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