A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1787996



Internal ID17797237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120949805..120957885hg38UCSC Ensembl
Innerchr1:144296090..144305617hg19UCSC Ensembl
Innerchr1:143007447..143016974hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388081
hg199528
hg189528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946228
Supporting Variants
SamplesHGDP00778
Known GenesLINC00623, LOC100288142, LOC728875
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)nssv1787996
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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