A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2187



Internal ID15200064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9607238..9633692hg38UCSC Ensembl
Outerchr1:9667296..9693750hg19UCSC Ensembl
Outerchr1:9589883..9616337hg18UCSC Ensembl
Outerchr1:9601562..9628016hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387455
hg197455
hg187455
hg177455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9906, nssv4948, nssv3334, nssv1500, nssv6883, nssv3119, nssv10282
SamplesNA18507, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesTMEM201
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)nsv2187
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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