A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2485784



Internal ID17803874
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 StatusS
Merged Variantsnsv966905
Supporting Variants
SamplesHGDP00778
Known GenesTPK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2485784
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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