A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2569



Internal ID15540549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157949433..157966864hg38UCSC Ensembl
Outerchr1:157919223..157936654hg19UCSC Ensembl
Outerchr1:156185847..156203278hg18UCSC Ensembl
Outerchr1:154732296..154749727hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386695
hg196695
hg186695
hg176695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3165
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)nssv2569
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