A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121731



Internal ID18921459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48833743..48836172hg38UCSC Ensembl
Outerchr4:48835760..48838189hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968375, nssv3994224
SamplesKWS1, KWS2
Known GenesOCIAD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121731
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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