A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5379



Internal ID15203496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84174192..84211106hg38UCSC Ensembl
Outerchr6:84883911..84920824hg19UCSC Ensembl
Outerchr6:84940630..84977543hg18UCSC Ensembl
Outerchr6:84940630..84977543hg17UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg387224
hg197224
hg187224
hg177224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2602, nssv565
SamplesNA19240, NA18555
Known GenesKIAA1009
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)nsv5379
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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