A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8572



Internal ID15188606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143961415..143994522hg38UCSC Ensembl
Outerchr8:145035583..145068690hg19UCSC Ensembl
Outerchr8:145107571..145140678hg18UCSC Ensembl
Outerchr8:145107571..145140678hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386315
hg196315
hg186315
hg176315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6445
Supporting Variants
SamplesNA12156
Known GenesGRINA, PARP10, PLEC
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)nssv8572
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