A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1808596



Internal ID17760333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175009931..175010431hg38UCSC Ensembl
Innerchr1:174979067..174979567hg19UCSC Ensembl
Innerchr1:173245690..173246190hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946511
Supporting Variants
SamplesHGDP00542
Known GenesCACYBP
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)nssv1808596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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