A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6990



Internal ID15551955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:88189478..88224002hg38UCSC Ensembl
OuterchrX:87444479..87479003hg19UCSC Ensembl
OuterchrX:87331135..87365659hg18UCSC Ensembl
OuterchrX:87250624..87285148hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg385488
hg195488
hg185488
hg175488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2835
SamplesNA18555
Known Genes
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)nsv6990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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