A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148587



Internal ID19199733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:92213100..92224901hg38UCSC Ensembl
OuterchrX:91468099..91479900hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3811802
hg1911802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000626
SamplesKWB1
Known GenesPCDH11X
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148587
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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