A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075726



Internal ID18978813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49584196..49587497hg38UCSC Ensembl
chrX:49348799..49352100hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771259
SamplesKWP1
Known GenesGAGE12C, GAGE12D, GAGE12E, GAGE12H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075726
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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