A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948



Internal ID15552969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18859494..18884125hg38UCSC Ensembl
Outerchr13:19433634..19458265hg19UCSC Ensembl
Outerchr13:18331634..18356265hg18UCSC Ensembl
Outerchr13:18331634..18356265hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg387907
hg197907
hg187907
hg177907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1137
SamplesNA19240
Known GenesANKRD20A9P
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)nsv948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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