A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3350



Internal ID15538078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57206972..57241459hg38UCSC Ensembl
Outerchr5:56502799..56537286hg19UCSC Ensembl
Outerchr5:56538556..56573043hg18UCSC Ensembl
Outerchr5:56538556..56573043hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385248
hg195248
hg185248
hg175248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4837
Supporting Variants
SamplesNA12878
Known GenesGPBP1
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)nssv3350
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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