A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755906



Internal ID17521990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17406691..17408548hg38UCSC Ensembl
Innerchr1:17733187..17735044hg19UCSC Ensembl
Innerchr1:17605774..17607631hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381858
hg191858
hg181858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945802
Supporting Variants
SamplesHGDP01284
Known GenesRCC2
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)nssv1755906
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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