A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545741



Internal ID16333150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21823442..21839408hg38UCSC Ensembl
Innerchr1:22149935..22165901hg19UCSC Ensembl
Innerchr1:22022522..22038488hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3815967
hg1915967
hg1815967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv711291
Samples
Known GenesHSPG2, LDLRAD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545741
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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