A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1815703



Internal ID17810060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208692795..208715436hg38UCSC Ensembl
Innerchr1:208866140..208888781hg19UCSC Ensembl
Innerchr1:206932763..206955404hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3822642
hg1922642
hg1822642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945271
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv1815703
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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