A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003904



Internal ID18746435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53991954..54053485hg38UCSC Ensembl
Innerchr1:54457627..54519158hg19UCSC Ensembl
Innerchr1:54230215..54291746hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3861532
hg1961532
hg1861532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3467066
Samples
Known GenesLDLRAD1, TMEM59
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003904
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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