A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114854



Internal ID19258596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:90527856..90528177hg38UCSC Ensembl
Outerchr6:91237575..91237896hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974285, nssv3958171
SamplesKWS2, KWS1
Known GenesMAP3K7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114854
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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