A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3957612



Internal ID19212537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:16929012..16929069hg38UCSC Ensembl
Outerchr5:16929121..16929178hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128145
Supporting Variants
SamplesKWS1
Known GenesMYO10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3957612
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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