A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135578



Internal ID19267107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40214938..40215263hg38UCSC Ensembl
Outerchr21:41586865..41587190hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2390n106
Supporting Variantsnssv3969624, nssv3965710
SamplesKWS2, KWS1
Known GenesDSCAM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135578
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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