A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586805



Internal ID18538400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215969945..216310768hg38UCSC Ensembl
Innerchr2:216834668..217175491hg19UCSC Ensembl
Innerchr2:216542913..216883736hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38340824
hg19340824
hg18340824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011506
Supporting Variants
Samples
Known GenesMARCH4, MREG, PECR, PKI55, TMEM169, XRCC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586805
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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