A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2644



Internal ID15540466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196757319..196864369hg38UCSC Ensembl
Outerchr1:196726449..196833499hg19UCSC Ensembl
Outerchr1:194993072..195100122hg18UCSC Ensembl
Outerchr1:193458106..193565156hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38107051
hg19107051
hg18107051
hg17107051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3999
Supporting Variants
SamplesNA18555
Known GenesCFHR1, CFHR3
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)nssv2644
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