A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5300



Internal ID15196689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:75360210..75393338hg38UCSC Ensembl
Outerchr10:77119968..77153096hg19UCSC Ensembl
Outerchr10:76789974..76823102hg18UCSC Ensembl
Outerchr10:76789974..76823102hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg386128
hg196128
hg186128
hg176128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7221
Supporting Variants
SamplesNA19129
Known GenesZNF503-AS1
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)nssv5300
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