A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014968



Internal ID19104185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225201788..225271306hg38UCSC Ensembl
Innerchr1:225389490..225459008hg19UCSC Ensembl
Innerchr1:223456113..223525631hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3869519
hg1969519
hg1869519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv579n100
Supporting Variantsnssv3488278, nssv3491034, nssv3500045
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)nsv1014968
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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