A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109448



Internal ID19248947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45997137..45997200hg38UCSC Ensembl
Outerchr21:47417051..47417114hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956155
SamplesKWS1
Known GenesCOL6A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109448
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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