A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999172



Internal ID19158708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9374840..9632366hg38UCSC Ensembl
Innerchr4:9376566..9633990hg19UCSC Ensembl
Innerchr4:8985664..9243088hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38257527
hg19257425
hg18257425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5103n100
Supporting Variantsnssv3738189
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)nsv999172
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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