A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002183



Internal ID18846338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:17484611..17484710hg38UCSC Ensembl
OuterchrX:17502734..17502833hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153530
Supporting Variants
SamplesKWB1
Known GenesNHS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002183
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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