A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126943



Internal ID18914742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:19514482..19515782hg38UCSC Ensembl
OuterchrX:19532600..19533900hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985224
SamplesKWS1
Known GenesMAP3K15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126943
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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