A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122129



Internal ID18933575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:56843502..56844102hg38UCSC Ensembl
Outerchr6:56708300..56708900hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969571
SamplesKWS2
Known GenesDST
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122129
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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