A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv204



Internal ID15383394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:49121334..49157254hg38UCSC Ensembl
OuterchrX:48977687..49016713hg19UCSC Ensembl
OuterchrX:48864631..48903657hg18UCSC Ensembl
OuterchrX:48733936..48773084hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3835921
hg1939027
hg1839027
hg1739149
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv204
Supporting Variants
SamplesNA15510
Known GenesGPKOW
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)nssv204
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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