A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001604



Internal ID19090821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9394920..9560119hg38UCSC Ensembl
Innerchr4:9396646..9561739hg19UCSC Ensembl
Innerchr4:9005744..9170837hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38165200
hg19165094
hg18165094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n100
Supporting Variantsnssv3613358
Samples
Known GenesDEFB131, LOC650293, MIR548I2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001604
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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