A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545083



Internal ID15985806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2575976..2653099hg38UCSC Ensembl
Innerchr1:2507415..2584538hg19UCSC Ensembl
Innerchr1:2497275..2574398hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3877124
hg1977124
hg1877124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708751
Samples
Known GenesFAM213B, MMEL1, TTC34
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545083
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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