A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987583



Internal ID19206253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154941325..154945025hg38UCSC Ensembl
OuterchrX:154169600..154173300hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132792
Supporting Variants
SamplesKWS1
Known GenesF8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987583
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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