A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586951



Internal ID18538546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235899999..238766417hg38UCSC Ensembl
Innerchr2:236808643..239675058hg19UCSC Ensembl
Innerchr2:236473382..239339797hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg382866419
hg192866416
hg182866416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000252
Supporting Variants
Samples
Known GenesACKR3, AGAP1, ASB1, ASB18, COL6A3, COPS8, ESPNL, GBX2, HES6, ILKAP, IQCA1, KLHL30, LINC01107, LOC151174, LOC643387, LRRFIP1, MIR6811, MLPH, PER2, PRLH, RAB17, RAMP1, RBM44, SCLY, TRAF3IP1, UBE2F, UBE2F-SCLY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586951
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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