A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124271



Internal ID18914253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137922370..137922440hg38UCSC Ensembl
Outerchr7:137607116..137607186hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992350, nssv3958681
SamplesKWS1, KWS2
Known GenesCREB3L2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124271
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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