A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500



Internal ID15203630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138787783..138820753hg38UCSC Ensembl
Outerchr6:139108920..139141890hg19UCSC Ensembl
Outerchr6:139150613..139183583hg18UCSC Ensembl
Outerchr6:139150613..139183583hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg387052
hg197052
hg187052
hg177052
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2617
SamplesNA18555
Known GenesCCDC28A, ECT2L
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)nsv5500
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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