A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3550



Internal ID15538278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91007035..91040498hg38UCSC Ensembl
Outerchr7:90636350..90669813hg19UCSC Ensembl
Outerchr7:90474286..90507749hg18UCSC Ensembl
Outerchr7:90281001..90314464hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg386266
hg196266
hg186266
hg176266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833
Supporting Variants
SamplesNA12878
Known GenesCDK14
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3550
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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