A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1800681



Internal ID17748150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155762452..155767537hg38UCSC Ensembl
Innerchr1:155732243..155737328hg19UCSC Ensembl
Innerchr1:153998867..154003952hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg385086
hg195086
hg185086
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946423
Supporting Variants
SamplesHGDP00521
Known GenesGON4L
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)nssv1800681
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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