A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv436835



Internal ID5951572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18941974..21512297hg19UCSC Ensembl
chr16:18849475..21419798hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv465535
SamplesNA18505
Known GenesACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ANKS4B, C16orf62, C16orf88, CCP110, COQ7, CRYM, CRYM-AS1, DCUN1D3, DNAH3, ERI2, GDE1, GP2, GPR139, GPRC5B, IQCK, ITPRIPL2, LOC100190986, LOC100271836, LOC81691, LYRM1, NPIPL3, PDILT, RUNDC2B, SYT17, THUMPD1, TMC5, TMC7, TMEM159, UMOD, ZP2
MethodSequencing
AnalysisThe best placements of paired-ends were used for identifying several different categories of SV: (i) deletions (size sd=3 kb) were identified from two or more overlapping discordant paired-ends with paired-end span >cutoff (with the condition that both putative breakpoints are spanned)
Platform454
Comments
ReferenceKorbel et al 2007
Pubmed ID17901297
Accession Number(s)nsv436835
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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