A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1232



Internal ID15545795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66607227..66622762hg38UCSC Ensembl
Outerchr1:67072910..67088445hg19UCSC Ensembl
Outerchr1:66845498..66861033hg18UCSC Ensembl
Outerchr1:66784931..66800466hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386468
hg196468
hg186468
hg176468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2965
SamplesNA18555
Known GenesSGIP1
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)nsv1232
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