A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000625



Internal ID19089842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117459286..117526803hg38UCSC Ensembl
Innerchr1:118001908..118069425hg19UCSC Ensembl
Innerchr1:117803431..117870948hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3867518
hg1967518
hg1867518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295n100
Supporting Variantsnssv3500704
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)nsv1000625
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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