A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130794



Internal ID18909743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2389313..2389415hg38UCSC Ensembl
Outerchr3:2430997..2431099hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967114
SamplesKWS2
Known GenesCNTN4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130794
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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