A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966896



Internal ID18255439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140453246..140456864hg38UCSC Ensembl
Innerchr7:140153046..140156664hg19UCSC Ensembl
Innerchr7:139799515..139803133hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg383619
hg193619
hg183619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2481521, nssv2481529, nssv2481524, nssv2481523, nssv2481522, nssv2481526, nssv2481525, nssv2481527, nssv2481520, nssv2481528
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMKRN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966896
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