A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv101



Internal ID15383280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155275103..155278531hg38UCSC Ensembl
Outerchr1:155244894..155248322hg19UCSC Ensembl
Outerchr1:153511518..153514946hg18UCSC Ensembl
Outerchr1:152057967..152061395hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3836534
hg1936534
hg1836534
hg1736534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv101
Supporting Variants
SamplesNA15510
Known GenesHCN3
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)nssv101
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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