A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1752002



Internal ID17876676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:803534..859995hg38UCSC Ensembl
Innerchr1:738914..795375hg19UCSC Ensembl
Innerchr1:728777..785238hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3856462
hg1956462
hg1856462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945734
Supporting Variants
SamplesHGDP01307
Known GenesFAM87B, LINC00115, LINC01128
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1752002
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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