A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001779



Internal ID18744310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47418557..47645813hg38UCSC Ensembl
Innerchr1:47884229..48111485hg19UCSC Ensembl
Innerchr1:47656816..47884072hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38227257
hg19227257
hg18227257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700656
Samples
Known GenesFOXD2, FOXD2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001779
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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