A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002430



Internal ID19091647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225201788..225283981hg38UCSC Ensembl
Innerchr1:225389490..225471683hg19UCSC Ensembl
Innerchr1:223456113..223538306hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3882194
hg1982194
hg1882194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579n100
Supporting Variantsnssv3501436
Samples
Known GenesDNAH14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002430
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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