A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112056



Internal ID19274448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6879793..6879917hg38UCSC Ensembl
Outerchr4:6881520..6881644hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2722n106
Supporting Variantsnssv3970301, nssv3966781
SamplesKWS2, KWS1
Known GenesKIAA0232
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112056
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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