A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017040



Internal ID18759575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:136745865..136841161hg38UCSC Ensembl
Innerchr6:137067003..137162299hg19UCSC Ensembl
Innerchr6:137108696..137203992hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3895297
hg1995297
hg1895297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6149n100
Supporting Variantsnssv3654407
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)nsv1017040
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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