A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012254



Internal ID18754787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102253039..102270630hg38UCSC Ensembl
Innerchr4:103174196..103191787hg19UCSC Ensembl
Innerchr4:103393219..103410810hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3817592
hg1917592
hg1817592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5347n100
Supporting Variantsnssv3631018, nssv3631019, nssv3631020, nssv3631021
Samples
Known GenesSLC39A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012254
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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