A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008530



Internal ID18751061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195557541..195728625hg38UCSC Ensembl
Innerchr3:195284382..195455496hg19UCSC Ensembl
Innerchr3:196765671..196941167hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38171085
hg19171115
hg18175497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5015n100
Supporting Variantsnssv3611410, nssv3611409
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)nsv1008530
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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