A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954566



Internal ID19218764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44414076..44414145hg38UCSC Ensembl
Outerchr17:42491444..42491513hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116223
Supporting Variants
SamplesKWS1
Known GenesGPATCH8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954566
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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