A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133408



Internal ID18916434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46443534..46706634hg38UCSC Ensembl
Outerchr17:44520900..44784000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38263101
hg19263101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967844
SamplesKWS2
Known GenesARL17A, LRRC37A2, NSF, NSFP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133408
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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