A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2973



Internal ID15541577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69192519..69226137hg38UCSC Ensembl
Outerchr17:67188660..67222278hg19UCSC Ensembl
Outerchr17:64700255..64733873hg18UCSC Ensembl
Outerchr17:64700255..64733873hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386217
hg196217
hg186217
hg176217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2129
Supporting Variants
SamplesNA18555
Known GenesABCA10
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)nssv2973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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