A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604163



Internal ID16391572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:93232143..93380358hg38UCSC Ensembl
Innerchr6:93941861..94090076hg19UCSC Ensembl
Innerchr6:93998582..94146797hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38148216
hg19148216
hg18148216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155776
Samples1780862401_A
Known GenesEPHA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604163
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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