A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605005



Internal ID16045728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160648909..160731417hg38UCSC Ensembl
Innerchr6:161069941..161152449hg19UCSC Ensembl
Innerchr6:160989931..161072439hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3882509
hg1982509
hg1882509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1075179
Samples
Known GenesLPA, PLG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605005
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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