A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136894



Internal ID18905333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99079374..99079437hg38UCSC Ensembl
Outerchr4:100000525..100000588hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986376, nssv3974469
SamplesKWS2, KWS1
Known GenesADH5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136894
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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