A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966905



Internal ID18602134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144645987..144648571hg38UCSC Ensembl
Innerchr7:144343080..144345664hg19UCSC Ensembl
Innerchr7:143974013..143976597hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382585
hg192585
hg182585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2485785, nssv2485788, nssv2485782, nssv2485786, nssv2485790, nssv2485787, nssv2485789, nssv2485784, nssv2485783, nssv2485791
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966905
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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