A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965319



Internal ID19207713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151077..49151407hg38UCSC Ensembl
Outerchr17:47228439..47228769hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121167
Supporting Variants
SamplesKWS1
Known GenesB4GALNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965319
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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