A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969540



Internal ID18881682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6713087..6714987hg38UCSC Ensembl
Outerchr5:6713200..6715100hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122100
Supporting Variants
SamplesKWS2
Known GenesPAPD7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969540
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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