A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126948



Internal ID19264739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107825270..107826970hg38UCSC Ensembl
OuterchrX:107068500..107070200hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985230
SamplesKWS1
Known GenesMID2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126948
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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