A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011506



Internal ID18754040
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 StatusM
Merged Variants
Supporting Variantsnssv3586805
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)nsv1011506
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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