A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1750183



Internal ID17392124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1751857..1760427hg38UCSC Ensembl
Innerchr1:1683296..1691866hg19UCSC Ensembl
Innerchr1:1673156..1681726hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388571
hg198571
hg188571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945749
Supporting Variants
SamplesHGDP00456
Known GenesNADK
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1750183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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