A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3957684



Internal ID18864855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:144159813..144159874hg38UCSC Ensembl
Outerchr5:143539377..143539438hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128196
Supporting Variants
SamplesKWS1
Known GenesYIPF5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3957684
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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