A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996117



Internal ID19191322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41184552..41184684hg38UCSC Ensembl
Outerchr17:39340804..39340936hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150642
Supporting Variants
SamplesKWB1
Known GenesKRTAP4-1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996117
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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