A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16396



Internal ID15488502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143856968..143865517hg38UCSC Ensembl
Outerchr7:143856407..143866038hg38UCSC Ensembl
Innerchr7:143554061..143562610hg19UCSC Ensembl
Outerchr7:143553500..143563131hg19UCSC Ensembl
Innerchr7:143184994..143193543hg18UCSC Ensembl
Outerchr7:143184433..143194064hg18UCSC Ensembl
Innerchr7:142991709..143000258hg17UCSC Ensembl
Outerchr7:142991148..143000779hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg389632
hg199632
hg189632
hg179632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8227
Supporting Variants
SamplesNA18552
Known GenesFAM115A
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv16396
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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