A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006885



Internal ID18749416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130162864..130400286hg38UCSC Ensembl
Innerchr2:130920437..131157859hg19UCSC Ensembl
Innerchr2:130636907..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38237423
hg19237423
hg18237423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4073n100
Supporting Variantsnssv3729233, nssv3580838
Samples
Known GenesCCDC115, IMP4, MZT2B, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006885
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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