A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv218



Internal ID15037020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153149490..153215460hg38UCSC Ensembl
OuterchrX:152263554..152517102hg19UCSC Ensembl
OuterchrX:152103121..152170296hg18UCSC Ensembl
OuterchrX:151934123..152001387hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3865971
hg19253549
hg1867176
hg1767265
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv218
SamplesNA15510
Known GenesMAGEA1
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)nsv218
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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