A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5685



Internal ID15543741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82578963..82591324hg38UCSC Ensembl
Outerchr17:80536839..80549200hg19UCSC Ensembl
Outerchr17:78130128..78142489hg18UCSC Ensembl
Outerchr17:78130128..78142489hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg386972
hg196972
hg186972
hg176972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2167
Supporting Variants
SamplesNA19129
Known GenesFOXK2
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)nssv5685
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