A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970538



Internal ID18605760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74926083..74950165hg38UCSC Ensembl
Innerchr7:74882163..74909647hg19UCSC Ensembl
Innerchr7:74720099..74747583hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3824083
hg1927485
hg1827485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2465294, nssv2465287, nssv2465291, nssv2465289, nssv2465293, nssv2465292, nssv2465286, nssv2465295, nssv2465290, nssv2465288
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970538
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer