A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1821293



Internal ID17826769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227597044..227599683hg38UCSC Ensembl
Innerchr1:227784745..227787384hg19UCSC Ensembl
Innerchr1:225851368..225854007hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382640
hg192640
hg182640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945341
Supporting Variants
SamplesHGDP00998
Known GenesZNF678
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)nssv1821293
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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