A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3483622



Internal ID18724577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202644965..202769793hg38UCSC Ensembl
Innerchr1:202614093..202738921hg19UCSC Ensembl
Innerchr1:200880716..201005544hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38124829
hg19124829
hg18124829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999672
Supporting Variants
Samples
Known GenesKDM5B, SYT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3483622
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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