A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603762



Internal ID16044485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75079810..75270703hg38UCSC Ensembl
Innerchr6:75789526..75980419hg19UCSC Ensembl
Innerchr6:75846246..76037139hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38190894
hg19190894
hg18190894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1064518
Samples
Known GenesCOL12A1, COX7A2, TMEM30A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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