A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5229



Internal ID15543931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56766247..56784671hg38UCSC Ensembl
OuterchrX:56792680..56811104hg19UCSC Ensembl
OuterchrX:56809405..56827829hg18UCSC Ensembl
OuterchrX:56675701..56694125hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3817038
hg1917038
hg1817038
hg1717038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6918
Supporting Variants
SamplesNA19129
Known GenesLOC550643
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5229
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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