A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140243



Internal ID19255663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83025191..83025641hg38UCSC Ensembl
Outerchr17:80983067..80983517hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978956
SamplesKWS1
Known GenesB3GNTL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140243
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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