A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123628



Internal ID19249958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:14490143..14490211hg38UCSC Ensembl
Outerchr3:14531651..14531719hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956967, nssv3973101
SamplesKWS2, KWS1
Known GenesGRIP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123628
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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