A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7087



Internal ID15536777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:53222425..53255387hg38UCSC Ensembl
Outerchr4:54088592..54121554hg19UCSC Ensembl
Outerchr4:53783349..53816311hg18UCSC Ensembl
Outerchr4:53929520..53962482hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386467
hg196467
hg186467
hg176467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4339
Supporting Variants
SamplesNA12156
Known GenesSCFD2
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)nssv7087
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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