A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117691



Internal ID18916289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2702217..2702272hg38UCSC Ensembl
Outerchr7:2741851..2741906hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957803
SamplesKWS1
Known GenesAMZ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117691
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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