A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126317



Internal ID19247643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57755017..57755917hg38UCSC Ensembl
Outerchr12:58148800..58149700hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984555
SamplesKWS1
Known GenesMARCH9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126317
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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