A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv627014



Internal ID15850546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:8626948..8737561hg38UCSC Ensembl
OuterchrX:8594989..8705602hg19UCSC Ensembl
OuterchrX:8554989..8665602hg18UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38110614
hg19110614
hg18110614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513762
Supporting Variants
Samples1
Known GenesKAL1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv627014
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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