A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144089



Internal ID18917380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:173529049..173529549hg38UCSC Ensembl
Outerchr4:174450200..174450700hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994811
SamplesKWS1
Known GenesHAND2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144089
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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