A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491072



Internal ID19078713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117489535..117530636hg38UCSC Ensembl
Innerchr1:118032157..118073258hg19UCSC Ensembl
Innerchr1:117833680..117874781hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3841102
hg1941102
hg1841102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011296
Supporting Variants
Samples
Known GenesMAN1A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3491072
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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