A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2



Internal ID15383676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148970927..149009493hg38UCSC Ensembl
Outerchr1:144874979..144913548hg19UCSC Ensembl
Outerchr1:143586336..143624905hg18UCSC Ensembl
Outerchr1:142364023..142402592hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3838567
hg1938570
hg1838570
hg1738570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2
SamplesNA15510
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)nsv2
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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