A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2310



Internal ID15200187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109674297..109718036hg38UCSC Ensembl
Outerchr1:110216919..110260658hg19UCSC Ensembl
Outerchr1:110018442..110062181hg18UCSC Ensembl
Outerchr1:109928961..109972700hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3843740
hg1943740
hg1843740
hg1743740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10189, nssv2307, nssv6805, nssv4479, nssv5773, nssv10968, nssv9560
SamplesNA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA18555
Known GenesGSTM1, GSTM2, GSTM5
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)nsv2310
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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