A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144041



Internal ID18913710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:55474572..55474972hg38UCSC Ensembl
Outerchr3:55508600..55509000hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994757
SamplesKWS1
Known GenesWNT5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144041
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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