A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993314



Internal ID18858275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41167916..41167993hg38UCSC Ensembl
Outerchr17:39324168..39324245hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141808
Supporting Variants
SamplesKWS1
Known GenesKRTAP4-3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993314
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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