A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140808



Internal ID19287304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77241225..77241479hg38UCSC Ensembl
Outerchr7:76870542..76870796hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986732, nssv3975949
SamplesKWS2, KWS1
Known GenesCCDC146
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140808
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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