A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981527



Internal ID18270038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74538935..74557403hg38UCSC Ensembl
Innerchr7:73953265..73971733hg19UCSC Ensembl
Innerchr7:73591201..73609669hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3818469
hg1918469
hg1818469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463477, nssv2463480, nssv2463475, nssv2463478, nssv2463479, nssv2463482, nssv2463483, nssv2463476, nssv2463481, nssv2463474
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGTF2IRD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981527
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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