A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026131



Internal ID18768663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136745865..136864780hg38UCSC Ensembl
Innerchr6:137067003..137185918hg19UCSC Ensembl
Innerchr6:137108696..137227611hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38118916
hg19118916
hg18118916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6149n100
Supporting Variantsnssv3654408
Samples
Known GenesMAP3K5, PEX7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026131
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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