A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1796652



Internal ID17748010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143934207..143964856hg38UCSC Ensembl
Innerchr1:149428779..149459426hg19UCSC Ensembl
Innerchr1:147695403..147726050hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3830650
hg1930648
hg1830648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946367
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1796652
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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