A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955274



Internal ID18869414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18048828..18048895hg38UCSC Ensembl
Outerchr17:17952142..17952209hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127540
Supporting Variants
SamplesKWS1
Known GenesGID4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955274
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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