A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069673



Internal ID19320996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57755016..57755717hg38UCSC Ensembl
chr12:58148799..58149500hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768610
SamplesKWP1
Known GenesMARCH9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069673
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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