A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4221



Internal ID15202223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207353427..207384212hg38UCSC Ensembl
Outerchr1:207526772..207557557hg19UCSC Ensembl
Outerchr1:205593395..205624180hg18UCSC Ensembl
Outerchr1:203915167..203945952hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3830786
hg1930786
hg1830786
hg1730786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4924, nssv2665
SamplesNA18555, NA19129
Known GenesCD55
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)nsv4221
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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