A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3442



Internal ID15548052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62682770..62714947hg38UCSC Ensembl
Outerchr20:61314122..61346299hg19UCSC Ensembl
Outerchr20:60784567..60816744hg18UCSC Ensembl
Outerchr20:60784567..60816744hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg387248
hg197248
hg187248
hg177248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6948, nssv3067
SamplesNA12156, NA18555
Known GenesNTSR1
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)nsv3442
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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