A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv39



Internal ID15383507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129743567..129773153hg38UCSC Ensembl
Outerchr8:130755813..130785399hg19UCSC Ensembl
Outerchr8:130824995..130854581hg18UCSC Ensembl
Outerchr8:130824995..130854581hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg389638
hg199638
hg189638
hg179638
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv39
Supporting Variants
SamplesNA15510
Known GenesGSDMC
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)nssv39
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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