A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv202



Internal ID15383680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:38720671..38751854hg38UCSC Ensembl
OuterchrX:38579925..38611108hg19UCSC Ensembl
OuterchrX:38464869..38496052hg18UCSC Ensembl
OuterchrX:38336142..38367325hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3831184
hg1931184
hg1831184
hg1731184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv202
SamplesNA15510
Known Genes
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)nsv202
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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