A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122179



Internal ID19257618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151519014..151520214hg38UCSC Ensembl
Outerchr7:151216100..151217300hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969621
SamplesKWS2
Known GenesRHEB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122179
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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