A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028349



Internal ID18770880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:111184772..111371598hg38UCSC Ensembl
Innerchr6:111505975..111692801hg19UCSC Ensembl
Innerchr6:111612668..111799494hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38186827
hg19186827
hg18186827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654298
Samples
Known GenesKIAA1919, REV3L, SLC16A10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028349
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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