A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013506



Internal ID18756037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113171761..113962104hg38UCSC Ensembl
Innerchr3:112890608..113680951hg19UCSC Ensembl
Innerchr3:114373298..115163641hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38790344
hg19790344
hg18790344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3735263
Samples
Known GenesATP6V1A, BOC, GRAMD1C, KIAA2018, MIR4446, MIR8076, NAA50, SIDT1, SPICE1, WDR52, WDR52-AS1, ZDHHC23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013506
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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