A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998689



Internal ID18811539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102258631..102285398hg38UCSC Ensembl
Innerchr4:103179788..103206555hg19UCSC Ensembl
Innerchr4:103398811..103425578hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3826768
hg1926768
hg1826768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3631028, nssv3631027
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)nsv998689
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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