A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997904



Internal ID19157440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225201788..225278935hg38UCSC Ensembl
Innerchr1:225389490..225466637hg19UCSC Ensembl
Innerchr1:223456113..223533260hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3877148
hg1977148
hg1877148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579n100
Supporting Variantsnssv3485695
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)nsv997904
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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