A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139243



Internal ID18934256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46273452..46273516hg38UCSC Ensembl
Outerchr4:46275469..46275533hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974426, nssv3957115
SamplesKWS2, KWS1
Known GenesGABRA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139243
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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