A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980837



Internal ID19205385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151072..49151410hg38UCSC Ensembl
Outerchr17:47228434..47228772hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118170
Supporting Variants
SamplesKWS1
Known GenesB4GALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980837
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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