A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066619



Internal ID19155838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46099606..46286792hg38UCSC Ensembl
Innerchr17:44176972..44364158hg19UCSC Ensembl
Innerchr17:41532785..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38187187
hg19187187
hg18187151
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3720567, nssv3720550, nssv3720559, nssv3548508, nssv3548471, nssv3548501, nssv3720570, nssv3720558, nssv3548470, nssv3548467, nssv3548485, nssv3548502, nssv3548491, nssv3548483, nssv3548497, nssv3720549, nssv3720561, nssv3548479, nssv3720560, nssv3720552, nssv3720569, nssv3548482, nssv3548472, nssv3720538, nssv3720571, nssv3548506, nssv3548477, nssv3720542, nssv3720541, nssv3548511, nssv3548507, nssv3548476, nssv3548478, nssv3548474, nssv3720565, nssv3548510, nssv3720564, nssv3548500, nssv3548498, nssv3548504, nssv3720572, nssv3548486, nssv3720540, nssv3720539, nssv3548512, nssv3720568, nssv3548495, nssv3720546, nssv3720544, nssv3548468, nssv3720556, nssv3548475, nssv3548503, nssv3720562, nssv3720547, nssv3548505, nssv3720551, nssv3720566, nssv3720554, nssv3548480, nssv3548490, nssv3720563, nssv3720557, nssv3548509, nssv3548492, nssv3548496, nssv3548481, nssv3548489, nssv3548473, nssv3720555, nssv3548469, nssv3720548, nssv3548487, nssv3548484, nssv3720545, nssv3548493, nssv3548494, nssv3548499, nssv3720553, nssv3720543, nssv3548488
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066619
Frequency
Sample Size11257
Observed Gain79
Observed Loss2
Observed Complex0
Frequencyn/a


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