A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143703



Internal ID19261377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81756921..81759421hg38UCSC Ensembl
Outerchr12:82150700..82153200hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994394
SamplesKWS1
Known GenesPPFIA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143703
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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