A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991148



Internal ID19234704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58663250..58663315hg38UCSC Ensembl
Outerchr17:56740611..56740676hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138560
Supporting Variants
SamplesKWS2
Known GenesTEX14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991148
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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