A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24621



Internal ID15497358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:899411..1776337hg38UCSC Ensembl
Outerchr1:898728..1777210hg38UCSC Ensembl
Innerchr1:834791..1707776hg19UCSC Ensembl
Outerchr1:834108..1708649hg19UCSC Ensembl
Innerchr1:824654..1697636hg18UCSC Ensembl
Outerchr1:823971..1698509hg18UCSC Ensembl
Innerchr1:874654..1739938hg17UCSC Ensembl
Outerchr1:873971..1740811hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38878483
hg19874542
hg18874539
hg17866841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA19221
Known GenesACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1orf159, C1orf170, C1orf233, CCNL2, CDK11A, CDK11B, CPSF3L, DVL1, FAM132A, GLTPD1, HES4, ISG15, KLHL17, LOC100130417, LOC148413, LOC254099, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23A, MMP23B, MRPL20, MXRA8, NADK, NOC2L, PLEKHN1, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SLC35E2, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv24621
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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