A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114779



Internal ID18917085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:10995368..10995428hg38UCSC Ensembl
Outerchr6:10995601..10995661hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975061, nssv3958105
SamplesKWS2, KWS1
Known GenesELOVL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114779
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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