A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970901



Internal ID18606123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79125166..79126361hg38UCSC Ensembl
Innerchr7:78754482..78755677hg19UCSC Ensembl
Innerchr7:78592418..78593613hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381196
hg191196
hg181196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2467932, nssv2467933, nssv2467938, nssv2467941, nssv2467935, nssv2467937, nssv2467940, nssv2467936, nssv2467934, nssv2467939
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAGI2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970901
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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