A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv57



Internal ID15036841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152210699..152214675hg38UCSC Ensembl
Outerchr1:152183175..152187151hg19UCSC Ensembl
Outerchr1:150449799..150453775hg18UCSC Ensembl
Outerchr1:148996248..149000224hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3813057
hg1913057
hg1813057
hg1713057
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv57
Supporting Variants
SamplesNA15510
Known GenesHRNR
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)nssv57
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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