A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545300



Internal ID16332709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7497092..7507352hg38UCSC Ensembl
Innerchr1:7557152..7567412hg19UCSC Ensembl
Innerchr1:7479739..7489999hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3810261
hg1910261
hg1810261
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709461
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545300
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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