A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524



Internal ID15550342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147107300..147133235hg38UCSC Ensembl
Outerchr6:147428436..147454371hg19UCSC Ensembl
Outerchr6:147470129..147496064hg18UCSC Ensembl
Outerchr6:147470129..147496064hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3825936
hg1925936
hg1825936
hg1725936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9896
SamplesNA18507
Known GenesSTXBP5-AS1
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)nsv5524
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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