A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984218



Internal ID19212784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45997035..45997156hg38UCSC Ensembl
Outerchr21:47416949..47417070hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126010
Supporting Variants
SamplesKWS1
Known GenesCOL6A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984218
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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