A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875



Internal ID15550728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101227053..101259693hg38UCSC Ensembl
Outerchr7:100870334..100902974hg19UCSC Ensembl
Outerchr7:100657054..100689694hg18UCSC Ensembl
Outerchr7:100463769..100496409hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388343
hg198343
hg188343
hg178343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666
SamplesNA19240
Known GenesCLDN15, FIS1
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)nsv5875
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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