A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000945



Internal ID18848318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17502516..17502824hg38UCSC Ensembl
OuterchrX:17520639..17520947hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149644
Supporting Variants
SamplesKWB1
Known GenesNHS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000945
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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