A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1811641



Internal ID17529272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202183226..202197981hg38UCSC Ensembl
Innerchr1:202152354..202167109hg19UCSC Ensembl
Innerchr1:200418977..200433732hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814756
hg1914756
hg1814756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946577
Supporting Variants
SamplesHGDP01307
Known GenesLGR6, PTPRVP
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)nssv1811641
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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