A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1782494



Internal ID17391926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110294217..110297253hg38UCSC Ensembl
Innerchr1:110836839..110839875hg19UCSC Ensembl
Innerchr1:110638362..110641398hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383037
hg193037
hg183037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946135
Supporting Variants
SamplesHGDP00456
Known GenesLOC440600
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)nssv1782494
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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