A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548397



Internal ID16335806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185135710..185154498hg38UCSC Ensembl
Innerchr1:185104842..185123630hg19UCSC Ensembl
Innerchr1:183371465..183390253hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3818789
hg1918789
hg1818789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729844
Samples
Known GenesTRMT1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548397
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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