A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545947



Internal ID15986670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30640876..30799204hg38UCSC Ensembl
Innerchr1:31113723..31272051hg19UCSC Ensembl
Innerchr1:30886310..31044638hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38158329
hg19158329
hg18158329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173807
SamplesHGDP01203
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545947
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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