A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137546



Internal ID19270924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:42781262..42783462hg38UCSC Ensembl
Outerchr6:42749000..42751200hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3307n106
Supporting Variantsnssv3990051
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137546
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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