A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994394



Internal ID19223917
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 StatusS
Merged Variantsnsv1143703
Supporting Variants
SamplesKWS1
Known GenesPPFIA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994394
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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