A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970568



Internal ID18605790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105818675..105820521hg38UCSC Ensembl
Innerchr7:105459121..105460967hg19UCSC Ensembl
Innerchr7:105246357..105248203hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2475016, nssv2475018, nssv2475014, nssv2475023, nssv2475020, nssv2475019, nssv2475017, nssv2475015, nssv2475021, nssv2475022
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesATXN7L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970568
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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