A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004943



Internal ID19094160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228832437..228858641hg38UCSC Ensembl
Innerchr1:228968184..228994388hg19UCSC Ensembl
Innerchr1:227034807..227061011hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3826205
hg1926205
hg1826205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489345
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004943
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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