A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023049



Internal ID19112266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:112288395..113225826hg38UCSC Ensembl
Innerchr6:112609597..113547028hg19UCSC Ensembl
Innerchr6:112716290..113653721hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38937432
hg19937432
hg18937432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654300
Samples
Known GenesRFPL4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023049
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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