A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5149



Internal ID15203243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177581433..177601040hg38UCSC Ensembl
Outerchr5:177008434..177028041hg19UCSC Ensembl
Outerchr5:176941040..176960647hg18UCSC Ensembl
Outerchr5:176941040..176960647hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387413
hg197413
hg187413
hg177413
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4879, nssv517
SamplesNA19240, NA19129
Known GenesB4GALT7, TMED9
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)nsv5149
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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