A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514012



Internal ID15466897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155689985..155694417hg38UCSC Ensembl
Innerchr1:155659776..155664208hg19UCSC Ensembl
Innerchr1:153926400..153930832hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2851085, nssv2849172, nssv2851134, nssv2849166, nssv2849161, nssv2849128, nssv2851139, nssv2851119, nssv2851103, nssv2849135, nssv2849127, nssv2851128, nssv2849173, nssv2851152, nssv2851091, nssv2851117, nssv2851129, nssv2849219, nssv2851123, nssv2851087, nssv2849196, nssv2849143, nssv2851147, nssv2849131, nssv2851086, nssv2849160, nssv2849215, nssv2851127, nssv2849207, nssv2849183, nssv2849202, nssv2849156, nssv2851120, nssv2849169, nssv2851097, nssv2849201, nssv2849178, nssv2849176, nssv2849165, nssv2849152, nssv2851099, nssv2849203, nssv2851102, nssv2849229, nssv2849139, nssv2849225, nssv2849218, nssv2851096, nssv2851138, nssv2849209, nssv2849137, nssv2849228, nssv2851089, nssv2849162, nssv2849145, nssv2849142, nssv2849186, nssv2849184, nssv2849130, nssv2849226, nssv2849129, nssv2849208, nssv2849188, nssv2851109, nssv2851079, nssv2849140, nssv2849212, nssv2849148, nssv2851130, nssv2851088, nssv2849206, nssv2849168, nssv2849214, nssv2849136, nssv2849189, nssv2851124, nssv2851143, nssv2849197, nssv2849211, nssv2849157, nssv2851116, nssv2851090, nssv2849200, nssv2849179, nssv2851151, nssv2851149, nssv2849190, nssv2851114, nssv2851133, nssv2849133, nssv2849222, nssv2851082, nssv2849175, nssv2849227, nssv2849134, nssv2849204, nssv2849180, nssv2849174, nssv2849187, nssv2849205, nssv2851081, nssv2851083, nssv2851137, nssv2849170, nssv2849230, nssv2851110, nssv2849199, nssv2851094, nssv2851095, nssv2849141, nssv2849171, nssv2851092, nssv2851140, nssv2849149, nssv2851136, nssv2851125, nssv2851112, nssv2849185, nssv2849181, nssv2851121, nssv2849144, nssv2851105, nssv2851084, nssv2849150, nssv2851080, nssv2849167, nssv2849154, nssv2851146, nssv2851126, nssv2851101, nssv2851122, nssv2851150, nssv2849231, nssv2849217, nssv2849164, nssv2849195, nssv2849151, nssv2851098, nssv2849163, nssv2849177, nssv2851142, nssv2849224, nssv2849182, nssv2849216, nssv2849210, nssv2851104, nssv2849158, nssv2851106, nssv2849153, nssv2851107, nssv2851100, nssv2849213, nssv2849191, nssv2849155, nssv2849138, nssv2849193, nssv2851132, nssv2851131, nssv2849146, nssv2851141, nssv2851135, nssv2849223, nssv2849132, nssv2849194, nssv2849221, nssv2851144, nssv2851145, nssv2851118, nssv2851078, nssv2849147, nssv2851111, nssv2851113, nssv2849198, nssv2851148, nssv2851108, nssv2849220, nssv2849159, nssv2851093, nssv2849192, nssv2851115, nssv2849232
SamplesNA18497, NA19237, NA19141, NA19222, NA21636, NA21686, NA21317, NA21477, NA19186, NA21524, NA21488, NA21423, NA18924, NA19249, NA19204, NA18862, NA18861, NA18855, NA19122, NA18935, NA21310, NA19145, NA18917, NA19092, NA18486, NA21648, NA21717, NA18925, NA18504, NA21475, NA21635, NA19190, NA19098, NA18870, NA21522, NA19127, NA19192, NA19171, NA18519, NA19201, NA21359, NA18489, NA21600, NA19191, NA19119, NA18923, NA19198, NA18860, NA19131, NA19197, NA18498, NA21391, NA19130, NA19199, NA19180, NA19123, NA18874, NA18868, NA21454, NA19137, NA21525, NA19235, NA19207, NA19172, NA21478, NA19159, NA21716, NA19189, NA19239, NA19209, NA21634, NA21442, NA21387, NA18908, NA18867, NA19200, NA21494, NA21480, NA21307, NA21313, NA19247, NA19120, NA18934, NA19194, NA19175, NA19152, NA19161, NA18933, NA18859, NA19184, NA19205, NA18485, NA19236, NA18516, NA18910, NA18871, NA18503, NA21485, NA19208, NA19179, NA19202, NA18907, NA21441, NA19114, NA19177, NA19142, NA19118, NA19150, NA18875, NA18518, NA19181, NA19151, NA18499, NA18930, NA19113, NA19154, NA18857, NA19099, NA19101, NA19257, NA19252, NA21583, NA19160, NA19132, NA21316, NA19094, NA19206, NA19183, NA18909, NA19115, NA19108, NA19149, NA19147, NA18517, NA18863, NA19140, NA19240, NA19174, NA21425, NA19144, NA21718, NA19193, NA18869, NA21361, NA18911, NA19182, NA19143, NA19117, NA18501, NA18484, NA19109, NA19248, NA21580, NA19223, NA19178, NA19173, NA19093, NA18509, NA18500, NA19185, NA21581, NA19102, NA18873, NA19096, NA19116, NA21384, NA21312, NA18872, NA21389, NA19121, NA21490, NA18852, NA19129, NA19224, NA18488, NA19148, NA21487, NA18522, NA19214, NA18487, NA19153
Known GenesDAP3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514012
Frequency
Sample Size2366
Observed Gain0
Observed Loss181
Observed Complex0
Frequencyn/a


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