A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002451



Internal ID19190927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151086..49151404hg38UCSC Ensembl
Outerchr17:47228448..47228766hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153797
Supporting Variants
SamplesKWB1
Known GenesB4GALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002451
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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