A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1555



Internal ID15546118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:78329281..78340604hg38UCSC Ensembl
Outerchr1:78794965..78806288hg19UCSC Ensembl
Outerchr1:78567553..78578876hg18UCSC Ensembl
Outerchr1:78506986..78518309hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3825372
hg1925372
hg1825372
hg1725372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9519
SamplesNA18507
Known GenesMGC27382
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)nsv1555
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