A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1816690



Internal ID17529494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207523456..207580860hg38UCSC Ensembl
Innerchr1:207696801..207754205hg19UCSC Ensembl
Innerchr1:205763424..205820828hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3857405
hg1957405
hg1857405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946622
Supporting Variants
SamplesHGDP01307
Known GenesCR1
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)nssv1816690
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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