A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2307



Internal ID15194012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109678527..109715482hg38UCSC Ensembl
Outerchr1:110221149..110258104hg19UCSC Ensembl
Outerchr1:110022672..110059627hg18UCSC Ensembl
Outerchr1:109933191..109970146hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3836956
hg1936956
hg1836956
hg1736956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2310
Supporting Variants
SamplesNA18555
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)nssv2307
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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