A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003481



Internal ID18746012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195557541..195730018hg38UCSC Ensembl
Innerchr3:195284382..195456889hg19UCSC Ensembl
Innerchr3:196765671..196942560hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38172478
hg19172508
hg18176890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611411
Samples
Known GenesAPOD, MIR570, MUC20, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003481
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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