A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005664



Internal ID18748195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130159287..130649604hg38UCSC Ensembl
Innerchr2:130916860..131407177hg19UCSC Ensembl
Innerchr2:130633330..131123647hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38490318
hg19490318
hg18490318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580837
Samples
Known GenesCCDC115, CFC1, CFC1B, CYP4F62P, FAR2P2, IMP4, LOC646743, MZT2B, POTEI, POTEJ, PTPN18, SMPD4, TISP43, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005664
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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