A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675188



Internal ID15065154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72631705..73336343hg38UCSC Ensembl
Innerchr7:72096690..72750345hg19UCSC Ensembl
Innerchr7:71734626..72388281hg18UCSC Ensembl
Innerchr7:71541341..72194996hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38704639
hg19653656
hg18653656
hg17653656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520573
Supporting Variants
Samples
Known GenesFKBP6, GTF2IP1, LOC100093631, LOC100101148, LOC541473, MIR4650-1, MIR4650-2, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM50, TRIM73, TRIM74, TYW1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675188
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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