A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136054



Internal ID18910706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1355020..1356820hg38UCSC Ensembl
Outerchr1:1290400..1292200hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984395, nssv3966614
SamplesKWS2, KWS1
Known GenesMXRA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136054
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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