A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136700



Internal ID18912437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:1209689..1209751hg38UCSC Ensembl
Outerchr3:1251373..1251435hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956950, nssv3973857
SamplesKWS1, KWS2
Known GenesCNTN6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136700
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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