A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2570



Internal ID15540548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13181497..13203587hg38UCSC Ensembl
Outerchr6:13181729..13203819hg19UCSC Ensembl
Outerchr6:13289708..13311798hg18UCSC Ensembl
Outerchr6:13289708..13311798hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg387144
hg197144
hg187144
hg177144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5204
Supporting Variants
SamplesNA18555
Known GenesPHACTR1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2570
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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