A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023279



Internal ID18765811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:612788..892309hg38UCSC Ensembl
Innerchr6:612788..892309hg19UCSC Ensembl
Innerchr6:557788..837309hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38279522
hg19279522
hg18279522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3747897
Samples
Known GenesEXOC2, HUS1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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