A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2348



Internal ID15540792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40746255..40790475hg38UCSC Ensembl
Outerchr21:42118181..42162401hg19UCSC Ensembl
Outerchr21:41040051..41084271hg18UCSC Ensembl
Outerchr21:41040051..41084271hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3844221
hg1944221
hg1844221
hg1744221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526
Supporting Variants
SamplesNA18555
Known GenesDSCAM
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)nssv2348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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