A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011296



Internal ID19100513
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 StatusM
Merged Variantsdgv296n100
Supporting Variantsnssv3491072
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)nsv1011296
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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