A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147181



Internal ID19200239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:51701598..51721404hg38UCSC Ensembl
OuterchrX:51444699..51464500hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3819807
hg1919802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998543
SamplesKWB1
Known GenesCENPVP1, CENPVP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147181
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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