A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10204



Internal ID15542594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:4712841..4740716hg38UCSC Ensembl
Outerchr2:4760431..4788306hg19UCSC Ensembl
Outerchr2:4738306..4766181hg18UCSC Ensembl
Outerchr2:4253800..4281675hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3827876
hg1927876
hg1827876
hg1727876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2580
Supporting Variants
SamplesNA18956
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)nssv10204
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