A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126946



Internal ID19260097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44469654..44472254hg38UCSC Ensembl
OuterchrX:44328900..44331500hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985227
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126946
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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