A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128211



Internal ID18909837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179264891..179264954hg38UCSC Ensembl
Outerchr5:178691892..178691955hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958453
SamplesKWS1
Known GenesADAMTS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128211
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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