A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2985



Internal ID15194876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58190918..58224850hg38UCSC Ensembl
Outerchr18:55858150..55892082hg19UCSC Ensembl
Outerchr18:54009148..54043062hg18UCSC Ensembl
Outerchr18:54009148..54043062hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg386092
hg196092
hg186092
hg176092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2323
Supporting Variants
SamplesNA18555
Known GenesNEDD4L
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)nssv2985
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