A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954882



Internal ID19212654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5005812..5005876hg38UCSC Ensembl
Outerchr17:4909107..4909171hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1109047
Supporting Variants
SamplesKWS1
Known GenesKIF1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954882
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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