A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1807785



Internal ID17735142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173734179..173741967hg38UCSC Ensembl
Innerchr1:173703318..173711106hg19UCSC Ensembl
Innerchr1:171969941..171977729hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg387789
hg197789
hg187789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946509
Supporting Variants
SamplesHGDP00456
Known GenesKLHL20
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)nssv1807785
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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