A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1160718

Internal ID18957739
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550456..43552931hg38UCSC Ensembl
Outerchr21:43548172..43553786hg38UCSC Ensembl
Innerchr21:44970337..44972812hg19UCSC Ensembl
Outerchr21:44968053..44973667hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040554, nssv4040542, nssv4040558, nssv4040539, nssv4040475, nssv4040495, nssv4040490, nssv4040571, nssv4040504, nssv4040535, nssv4040531, nssv4040530, nssv4040520, nssv4040562, nssv4040524, nssv4040545, nssv4040568, nssv4040559, nssv4040486, nssv4040534, nssv4040497, nssv4040482, nssv4040525, nssv4040484, nssv4040551, nssv4040469, nssv4040488, nssv4040472, nssv4040538, nssv4040494, nssv4040553, nssv4040503, nssv4040493, nssv4040566, nssv4040561, nssv4040540, nssv4040516, nssv4040548, nssv4040549, nssv4040501, nssv4040514, nssv4040491, nssv4040543, nssv4040511, nssv4040474, nssv4040546, nssv4040515, nssv4040523, nssv4040509, nssv4040527, nssv4040499, nssv4040563, nssv4040481, nssv4040555, nssv4040560, nssv4040565, nssv4040547, nssv4040572, nssv4040550, nssv4040473, nssv4040496, nssv4040470, nssv4040508, nssv4040556, nssv4040483, nssv4040541, nssv4040532, nssv4040521, nssv4040512, nssv4040507, nssv4040480, nssv4040536, nssv4040505, nssv4040485, nssv4040557, nssv4040510, nssv4040564, nssv4040529, nssv4040518, nssv4040500, nssv4040552, nssv4040498, nssv4040517, nssv4040502, nssv4040537, nssv4040513, nssv4040570, nssv4040476, nssv4040506, nssv4040533, nssv4040487, nssv4040567, nssv4040479, nssv4040477, nssv4040569, nssv4040528, nssv4040522, nssv4040526, nssv4040544, nssv4040489, nssv4040519, nssv4040471, nssv4040492, nssv4040478
Known GenesHSF2BP
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Pubmed ID26073780
Accession Number(s)nsv1160718
Sample Size369
Observed Gain1
Observed Loss103
Observed Complex0

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