A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112829



Internal ID18922134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72888149..72888449hg38UCSC Ensembl
Outerchr3:72937300..72937600hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981606, nssv3969120
SamplesKWS2, KWS1
Known GenesGXYLT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112829
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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