A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991145



Internal ID19244152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57154198..57154289hg38UCSC Ensembl
Outerchr17:55231559..55231650hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138557
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991145
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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