A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517643



Internal ID15098250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88713767..88756339hg38UCSC Ensembl
Innerchr16:88780175..88822747hg19UCSC Ensembl
Innerchr16:87307676..87350248hg18UCSC Ensembl
Innerchr16:87307676..87350248hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3842573
hg1942573
hg1842573
hg1742573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681715, nssv687496, nssv691475, nssv663521, nssv677150, nssv692965, nssv668671, nssv652657, nssv688908, nssv689646, nssv664140, nssv677918, nssv672984, nssv683672, nssv690237, nssv660783, nssv669113, nssv669932, nssv691871, nssv665584, nssv675166, nssv673024
Samples
Known GenesCTU2, LOC100289580, MIR4722, PIEZO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517643
Frequency
Sample Size2026
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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