A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1550



Internal ID15545527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172310485..172328109hg38UCSC Ensembl
Outerchr2:173175213..173192837hg19UCSC Ensembl
Outerchr2:172883459..172901083hg18UCSC Ensembl
Outerchr2:173000720..173018344hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3817625
hg1917625
hg1817625
hg1717625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3034
Supporting Variants
SamplesNA19240
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)nssv1550
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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