A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821629



Internal ID16064004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128739264..130334676hg38UCSC Ensembl
Innerchr2:129496838..131092249hg19UCSC Ensembl
Innerchr2:129213308..130808719hg18UCSC Ensembl
Innerchr2:129213068..130808479hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381595413
hg191595412
hg181595412
hg171595412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421350
Samples
Known GenesCCDC74B, FAR2P1, LOC389033, MED15P9, MZT2B, POTEF, RAB6C, RAB6C-AS1, SMPD4, TUBA3E
MethodROMA
AnalysisMeasured intensities without background subtraction were used to calculate ratios. Data were normalized using an intensity-based lowess curve fitting algorithm similar to that described in Yang et al. Log ratio values obtained from color reversal experiments were averaged and displayed as presented in the figures. Copy number polymorphisms (CNPs) were identified based on probe ratios using a Hidden Markov Model.
PlatformA custom Nimblegen photoprint 85,000 probe ROMA oligo array platform was used.
Comments
ReferenceSebat_et_al_2004
Pubmed ID15273396
Accession Number(s)nsv821629
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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