A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545739



Internal ID16333148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21815490..21858059hg38UCSC Ensembl
Innerchr1:22141983..22184552hg19UCSC Ensembl
Innerchr1:22014570..22057139hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3842570
hg1942570
hg1842570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv180n54
Supporting Variantsnssv1173795
SamplesNINDS_70
Known GenesHSPG2, LDLRAD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545739
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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