A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv276



Internal ID15036787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109681375..109710259hg38UCSC Ensembl
Outerchr1:110223997..110252881hg19UCSC Ensembl
Outerchr1:110025520..110054404hg18UCSC Ensembl
Outerchr1:109936039..109964923hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3828885
hg1928885
hg1828885
hg1728885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv276
Supporting Variants
SamplesNA15510
Known GenesGSTM1, GSTM2
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv276
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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