A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1807120



Internal ID17500942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179201277..179201906hg38UCSC Ensembl
Innerchr1:179170412..179171041hg19UCSC Ensembl
Innerchr1:177437035..177437664hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946522
Supporting Variants
SamplesHGDP01029
Known GenesABL2
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)nssv1807120
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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