A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4282



Internal ID15192323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62692811..62726853hg38UCSC Ensembl
Outerchr17:60770172..60804214hg19UCSC Ensembl
Outerchr17:58123904..58157946hg18UCSC Ensembl
Outerchr17:58123904..58157946hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg385702
hg195702
hg185702
hg175702
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2115
Supporting Variants
SamplesNA12878
Known GenesMARCH10, MIR548W, MRC2
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)nssv4282
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