A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130046



Internal ID19274093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6879809..6879926hg38UCSC Ensembl
Outerchr4:6881536..6881653hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2722n106
Supporting Variantsnssv3965195
SamplesKWS2
Known GenesKIAA0232
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130046
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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