A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970884



Internal ID18259420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75198892..75201680hg38UCSC Ensembl
Innerchr7:74614606..74617397hg19UCSC Ensembl
Innerchr7:74252542..74255333hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382789
hg192792
hg182792
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463661, nssv2463660, nssv2463665, nssv2463668, nssv2463669, nssv2463666, nssv2463663, nssv2463664, nssv2463667, nssv2463662
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970884
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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