A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000100



Internal ID19089317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117403539..117509275hg38UCSC Ensembl
Innerchr1:117946161..118051897hg19UCSC Ensembl
Innerchr1:117747684..117853420hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38105737
hg19105737
hg18105737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv294n100
Supporting Variantsnssv3482945
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)nsv1000100
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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