A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114516



Internal ID18913789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47524849..47524904hg38UCSC Ensembl
Outerchr4:47526866..47526921hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974429
SamplesKWS2
Known GenesATP10D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114516
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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