A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121356



Internal ID18923659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136275701..136275842hg38UCSC Ensembl
Outerchr6:136596839..136596980hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3401n106
Supporting Variantsnssv3965352, nssv3972297
SamplesKWS2, KWS1
Known GenesBCLAF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121356
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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