A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967843



Internal ID18897354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46124934..46226134hg38UCSC Ensembl
Outerchr17:44202300..44303500hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38101201
hg19101201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133407
Supporting Variants
SamplesKWS2
Known GenesKANSL1, KANSL1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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