A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006165



Internal ID19095383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195656259..196050340hg38UCSC Ensembl
Innerchr3:195383130..195777211hg19UCSC Ensembl
Innerchr3:196868311..197261608hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38394082
hg19394082
hg18393298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3612241
Samples
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TFRC, TNK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006165
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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