A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129090



Internal ID18914539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103978922..104069742hg38UCSC Ensembl
OuterchrX:103233500..103324900hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg3890821
hg1991401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961763
SamplesKWS1
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129090
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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