A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137349



Internal ID18928641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17408092..17408416hg38UCSC Ensembl
Outerchr8:17265601..17265925hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976045, nssv3986823
SamplesKWS1, KWS2
Known GenesMTMR7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137349
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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