A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073548



Internal ID18969618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36984923..36990124hg38UCSC Ensembl
chr6:36952699..36957900hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770472
SamplesKWP1
Known GenesMTCH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073548
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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