A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982177



Internal ID18862188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28626523..29718723hg38UCSC Ensembl
Outerchr6:28594300..29686500hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381092201
hg191092201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145096
Supporting Variants
SamplesKWS1
Known GenesC6orf100, GABBR1, HCG14, LINC01015, LOC100129636, LOC401242, MAS1L, MOG, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2B3, OR2H1, OR2H2, OR2J2, OR2J3, OR2W1, OR5V1, SNORD32B, TRIM27, UBD, ZFP57, ZNF311
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982177
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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