A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2053



Internal ID15541336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:105192167..105224514hg38UCSC Ensembl
Outerchr13:105844518..105876865hg19UCSC Ensembl
Outerchr13:104642519..104674866hg18UCSC Ensembl
Outerchr13:104642519..104674866hg17UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg387684
hg197684
hg187684
hg177684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1166
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2053
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