A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1768355



Internal ID17869978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52772245..52774878hg38UCSC Ensembl
Innerchr1:53237917..53240550hg19UCSC Ensembl
Innerchr1:53010505..53013138hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382634
hg192634
hg182634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945948
Supporting Variants
SamplesHGDP01284
Known GenesZYG11B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1768355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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