A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138561



Internal ID18938854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59252331..59252400hg38UCSC Ensembl
Outerchr17:57329692..57329761hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991149
SamplesKWS2
Known GenesGDPD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138561
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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