A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1752575



Internal ID17744618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8614398..8616370hg38UCSC Ensembl
Innerchr1:8674457..8676429hg19UCSC Ensembl
Innerchr1:8597044..8599016hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381973
hg191973
hg181973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945758
Supporting Variants
SamplesHGDP00521
Known GenesRERE
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1752575
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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