A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123642



Internal ID19286201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45726859..45727184hg38UCSC Ensembl
Outerchr3:45768351..45768676hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986199, nssv3973889
SamplesKWS2, KWS1
Known GenesSACM1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123642
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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