A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004856



Internal ID19094073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225040585..225083435hg38UCSC Ensembl
Innerchr1:225228287..225271137hg19UCSC Ensembl
Innerchr1:223294910..223337760hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3842851
hg1942851
hg1842851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489224
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)nsv1004856
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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