A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117757



Internal ID18923427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:122323834..122323903hg38UCSC Ensembl
Outerchr7:121963888..121963957hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957892
SamplesKWS1
Known GenesCADPS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117757
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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