A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991127



Internal ID18882001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42213665..42213739hg38UCSC Ensembl
Outerchr17:40365683..40365757hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138540
Supporting Variants
SamplesKWS2
Known GenesSTAT5B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991127
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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