A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118389



Internal ID19273817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41752346..41752415hg38UCSC Ensembl
OuterchrX:41611599..41611668hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958881
SamplesKWS1
Known GenesCASK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118389
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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