A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6789



Internal ID15551733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:8699800..8713747hg38UCSC Ensembl
OuterchrX:8667841..8681788hg19UCSC Ensembl
OuterchrX:8627841..8641788hg18UCSC Ensembl
OuterchrX:8477577..8491524hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3813948
hg1913948
hg1813948
hg1713948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8683
SamplesNA12156
Known GenesKAL1
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)nsv6789
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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