A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947418



Internal ID18247580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:26470614..26477280hg38UCSC Ensembl
Innerchr1:26797105..26803771hg19UCSC Ensembl
Innerchr1:26669692..26676358hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386667
hg196667
hg186667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2761713
SamplesHGDP00998
Known GenesDHDDS, HMGN2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947418
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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