A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2103



Internal ID15546666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56402525..56437079hg38UCSC Ensembl
Outerchr17:54479886..54514440hg19UCSC Ensembl
Outerchr17:51834885..51869439hg18UCSC Ensembl
Outerchr17:51834885..51869439hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg385192
hg195192
hg185192
hg175192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4280
SamplesNA12878
Known GenesANKFN1
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)nsv2103
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