A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030834



Internal ID18773365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17524711..17818968hg38UCSC Ensembl
Innerchr6:17524942..17819199hg19UCSC Ensembl
Innerchr6:17632921..17927178hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38294258
hg19294258
hg18294258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5922n100
Supporting Variantsnssv3654809
Samples
Known GenesCAP2, FAM8A1, KIF13A, NUP153
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030834
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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