A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178



Internal ID15547761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222028099..222073530hg38UCSC Ensembl
Outerchr2:222892818..222938249hg19UCSC Ensembl
Outerchr2:222601062..222646493hg18UCSC Ensembl
Outerchr2:222718323..222763754hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3845432
hg1945432
hg1845432
hg1745432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6904
SamplesNA12156
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)nsv3178
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer