A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008693



Internal ID18751224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16864355..16935740hg38UCSC Ensembl
Innerchr1:17190850..17262235hg19UCSC Ensembl
Innerchr1:17063437..17134822hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3871386
hg1971386
hg1871386
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n100
Supporting Variantsnssv3700180, nssv3475242, nssv3700181, nssv3700174, nssv3700196, nssv3700170, nssv3700189, nssv3473818, nssv3700200, nssv3470563, nssv3479249, nssv3700199, nssv3700171, nssv3469442, nssv3463143, nssv3470173, nssv3465804, nssv3700193, nssv3465054, nssv3481016, nssv3475426, nssv3476334, nssv3700187, nssv3480753, nssv3466198, nssv3700175, nssv3479769, nssv3480146, nssv3470653, nssv3700194, nssv3472035, nssv3473046, nssv3700198, nssv3700168, nssv3700167, nssv3473814, nssv3465407, nssv3464255, nssv3700179, nssv3700177, nssv3700188, nssv3467116, nssv3481500, nssv3462929, nssv3476277, nssv3700201, nssv3462981, nssv3476710, nssv3700176, nssv3478475, nssv3465193, nssv3464109, nssv3700192, nssv3477183, nssv3476269, nssv3480958, nssv3700197, nssv3700172, nssv3700202, nssv3468387, nssv3476805, nssv3463632, nssv3480164, nssv3471653, nssv3469910, nssv3700178, nssv3478005, nssv3474949, nssv3472417, nssv3481767, nssv3465679, nssv3700191, nssv3700182, nssv3476751, nssv3467185, nssv3475121, nssv3471545, nssv3468720, nssv3465823, nssv3700190, nssv3464904, nssv3700186, nssv3465257, nssv3476328, nssv3473284, nssv3474209, nssv3700183, nssv3700185, nssv3700169, nssv3468912, nssv3700166, nssv3480313, nssv3700195, nssv3700173, nssv3481910, nssv3474803, nssv3464442, nssv3700184
Samples
Known GenesCROCC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008693
Frequency
Sample Size29084
Observed Gain76
Observed Loss22
Observed Complex0
Frequencyn/a


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